Canonical Allele Identifier: CA340601372
Gene: ANGPTL3 HGNC NCBI
DOCK7 HGNC NCBI

Linked Data

gnomAD v4: 1-62597996-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62597996C>A , CM000663.2:g.62597996C>A GRCh38
NC_000001.10:g.63063667C>A , CM000663.1:g.63063667C>A GRCh37
NC_000001.9:g.62836255C>A NCBI36
NG_028169.1:g.5481C>A
NG_033073.1:g.95373G>T
NG_033073.2:g.95373G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371129.4:c.430C>A (ANGPTL3) MANE Select ENSP00000360170.3:p.Gln144Lys
ENST00000614472.5:c.1389-11372G>T (DOCK7) ENSP00000483062.2:n.1389-11372G>T
ENST00000635253.2:c.1683-11372G>T (DOCK7) MANE Select ENSP00000489124.1:n.1683-11372G>T
ENST00000637208.1:c.1683-11372G>T (DOCK7) ENSP00000490079.1:n.1683-11372G>T
ENST00000637227.1:n.82-455G>T (DOCK7)
ENST00000251157.10:c.1683-11372G>T (DOCK7) ENSP00000251157.6:n.1683-11372G>T
ENST00000340370.10:c.1683-11372G>T (DOCK7) ENSP00000340742.5:n.1683-11372G>T
ENST00000371129.3:c.430C>A (ANGPTL3) ENSP00000360170.3:p.Gln144Lys
ENST00000404627.3:c.1683-11372G>T (DOCK7) ENSP00000384446.2:n.1683-11372G>T
ENST00000454575.6:c.1683-11372G>T (DOCK7) ENSP00000413583.2:n.1683-11372G>T
ENST00000614472.4:c.1359-11372G>T (DOCK7) ENSP00000483062.1:n.1359-11372G>T
ENST00000634223.1:c.13-11372G>T (DOCK7)
ENST00000634264.1:c.1683-11372G>T (DOCK7) ENSP00000489284.1:n.1683-11372G>T
ENST00000635123.1:c.1683-11372G>T (DOCK7) ENSP00000489499.1:n.1683-11372G>T
ENST00000635253.1:c.1683-11372G>T (DOCK7) ENSP00000489124.1:n.1683-11372G>T
NM_001271999.1:c.1683-11372G>T (DOCK7) NP_001258928.1:n.1683-11372G>T
NM_001272000.1:c.1683-11372G>T (DOCK7) NP_001258929.1:n.1683-11372G>T
NM_001272001.1:c.1683-11372G>T (DOCK7) NP_001258930.1:n.1683-11372G>T
NM_001272002.1:c.1683-11372G>T (DOCK7) NP_001258931.1:n.1683-11372G>T
NM_014495.3:c.430C>A (ANGPTL3) NP_055310.1:p.Gln144Lys
NM_033407.3:c.1683-11372G>T (DOCK7) NP_212132.2:n.1683-11372G>T
XM_005271292.1:c.1683-11372G>T (DOCK7) XP_005271349.1:n.1683-11372G>T
XM_011542326.1:c.1683-11372G>T (DOCK7) XP_011540628.1:n.1683-11372G>T
XM_011542327.1:c.1683-11372G>T (DOCK7) XP_011540629.1:n.1683-11372G>T
XM_011542328.1:c.1683-11372G>T (DOCK7) XP_011540630.1:n.1683-11372G>T
XM_011542329.1:c.1683-11372G>T (DOCK7) XP_011540631.1:n.1683-11372G>T
XM_011542330.1:c.1683-11372G>T (DOCK7) XP_011540632.1:n.1683-11372G>T
NM_001330614.1:c.1683-11372G>T (DOCK7) NP_001317543.1:n.1683-11372G>T
XM_011542326.2:c.1683-11372G>T (DOCK7) XP_011540628.1:n.1683-11372G>T
XM_011542327.2:c.1683-11372G>T (DOCK7) XP_011540629.1:n.1683-11372G>T
XM_011542328.2:c.1683-11372G>T (DOCK7) XP_011540630.1:n.1683-11372G>T
XM_011542330.2:c.1683-11372G>T (DOCK7) XP_011540632.1:n.1683-11372G>T
XM_017002639.1:c.1683-11372G>T (DOCK7) XP_016858128.1:n.1683-11372G>T
XM_017002640.1:c.1683-11372G>T (DOCK7) XP_016858129.1:n.1683-11372G>T
NM_001367561.1:c.1683-11372G>T (DOCK7) MANE Select NP_001354490.1:n.1683-11372G>T
NM_001272002.2:c.1683-11372G>T (DOCK7) NP_001258931.1:n.1683-11372G>T
NM_014495.4:c.430C>A (ANGPTL3) MANE Select NP_055310.1:p.Gln144Lys
NM_001271999.2:c.1683-11372G>T (DOCK7) NP_001258928.1:n.1683-11372G>T
NM_001272000.2:c.1683-11372G>T (DOCK7) NP_001258929.1:n.1683-11372G>T
NM_001272001.2:c.1683-11372G>T (DOCK7) NP_001258930.1:n.1683-11372G>T
NM_001330614.2:c.1683-11372G>T (DOCK7) NP_001317543.1:n.1683-11372G>T
NM_033407.4:c.1683-11372G>T (DOCK7) NP_212132.2:n.1683-11372G>T