Canonical Allele Identifier: CA278666412
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433218
ClinVar RCV Id: RCV000499276 RCV002506210
dbSNP Id: rs72650698
gnomAD v4: 16-16202090-G-A
MyVariant Identifiers: chr16:g.16295947G>A (hg19) chr16:g.16202090G>A (hg38)
PubMed: PMID:17617515
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16202090G>A , CM000678.2:g.16202090G>A GRCh38
NC_000016.9:g.16295947G>A , CM000678.1:g.16295947G>A GRCh37
NC_000016.8:g.16203448G>A NCBI36
NG_007558.2:g.26382C>T
NG_007558.3:g.26528C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000574094.6:c.1087C>T ENSP00000507301.1:p.Gln363Ter
ENST00000622290.5:c.1087C>T ENSP00000483331.2:p.Gln363Ter
ENST00000205557.12:c.1087C>T MANE Select ENSP00000205557.7:p.Gln363Ter
ENST00000205557.11:c.1087C>T ENSP00000205557.7:p.Gln363Ter
ENST00000456970.6:c.1087C>T ENSP00000405002.2:p.Gln363Ter
ENST00000574094.5:n.1183C>T
ENST00000577103.1:c.*954C>T ENSP00000459243.1:n.*954C>T
ENST00000622290.4:c.1087C>T ENSP00000483331.1:p.Gln363Ter
NM_001171.5:c.1087C>T NP_001162.4:p.Gln363Ter
XM_011522479.1:c.1087C>T XP_011520781.1:p.Gln363Ter
XM_011522480.1:c.745C>T XP_011520782.1:p.Gln249Ter
XM_011522481.1:c.745C>T XP_011520783.1:p.Gln249Ter
XM_011522482.1:c.1087C>T XP_011520784.1:p.Gln363Ter
XR_932836.1:n.1322C>T
XR_932837.1:n.1323C>T
XR_932838.1:n.1323C>T
NM_001351800.1:c.745C>T NP_001338729.1:p.Gln249Ter
NR_147784.1:n.1124C>T
XM_011522479.2:c.1087C>T XP_011520781.1:p.Gln363Ter
XM_011522481.3:c.745C>T XP_011520783.1:p.Gln249Ter
XM_011522482.3:c.1087C>T XP_011520784.1:p.Gln363Ter
XM_017023212.1:c.1087C>T XP_016878701.1:p.Gln363Ter
XM_017023214.1:c.1087C>T XP_016878703.1:p.Gln363Ter
XM_024450261.1:c.1123C>T XP_024306029.1:p.Gln375Ter
XR_932836.2:n.1268C>T
XR_932837.3:n.1268C>T
XR_932838.3:n.1268C>T
NM_001171.6:c.1087C>T MANE Select NP_001162.5:p.Gln363Ter
Search 100 bp 5'
Search 100 bp 3'