Canonical Allele Identifier: CA278657979
Gene: ABCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.16190247G>T
GRCh37 chr16:g.16284104G>T
gnomAD v2:
16:16284104 G / T
gnomAD v4:
chr16-16190247-G-T
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV002700117
ClinVar Variation:
1952946
dbSNP:
72650700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16190247G>T , CM000678.2:g.16190247G>T GRCh38
NC_000016.9:g.16284104G>T , CM000678.1:g.16284104G>T GRCh37
NC_000016.8:g.16191605G>T NCBI36
NG_007558.2:g.38225C>A
NG_007558.3:g.38371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.1552C>A ENSP00000483331.2:p.Arg518=
ENST00000205557.12:c.1552C>A MANE Select ENSP00000205557.7:p.Arg518=
ENST00000205557.11:c.1552C>A ENSP00000205557.7:p.Arg518=
ENST00000456970.6:c.1552C>A ENSP00000405002.2:p.Arg518=
ENST00000574094.5:n.1648C>A
ENST00000622290.4:c.1552C>A ENSP00000483331.1:p.Arg518=
NM_001171.5:c.1552C>A NP_001162.4:p.Arg518=
XM_011522479.1:c.1552C>A XP_011520781.1:p.Arg518=
XM_011522480.1:c.1210C>A XP_011520782.1:p.Arg404=
XM_011522481.1:c.1210C>A XP_011520783.1:p.Arg404=
XM_011522482.1:c.1552C>A XP_011520784.1:p.Arg518=
XR_932836.1:n.1787C>A
XR_932837.1:n.1788C>A
XR_932838.1:n.1788C>A
NM_001351800.1:c.1210C>A NP_001338729.1:p.Arg404=
NR_147784.1:n.1589C>A
XM_011522479.2:c.1552C>A XP_011520781.1:p.Arg518=
XM_011522481.3:c.1210C>A XP_011520783.1:p.Arg404=
XM_011522482.3:c.1552C>A XP_011520784.1:p.Arg518=
XM_017023212.1:c.1552C>A XP_016878701.1:p.Arg518=
XM_017023214.1:c.1552C>A XP_016878703.1:p.Arg518=
XM_024450261.1:c.1588C>A XP_024306029.1:p.Arg530=
XR_932836.2:n.1733C>A
XR_932837.3:n.1733C>A
XR_932838.3:n.1733C>A
NM_001171.6:c.1552C>A MANE Select NP_001162.5:p.Arg518=
Search 100 bp 5'
Search 100 bp 3'