Canonical Allele Identifier: CA394875502

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046493182
• gnomAD v4: 16-16154901-A-G
• MyVariant Identifiers: chr16:g.16248758A>G (hg19) ; chr16:g.16154901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154901A>G , CM000678.2:g.16154901A>G	GRCh38
NC_000016.9:g.16248758A>G , CM000678.1:g.16248758A>G	GRCh37
NC_000016.8:g.16156259A>G	NCBI36
NG_007558.2:g.73571T>C
NG_007558.3:g.73717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.876T>C
ENST00000622290.5:c.*185T>C	ENSP00000483331.2:n.*185T>C
ENST00000205557.12:c.4013T>C MANE Select	ENSP00000205557.7:p.Leu1338Pro
ENST00000640696.1:c.827T>C	ENSP00000492197.1:p.Leu276Pro
ENST00000205557.11:c.4013T>C	ENSP00000205557.7:p.Leu1338Pro
ENST00000456970.6:c.3638T>C	ENSP00000405002.2:n.3638T>C
ENST00000576204.5:n.876T>C
ENST00000622290.4:c.*1222T>C	ENSP00000483331.1:n.*1222T>C
NM_001171.5:c.4013T>C	NP_001162.4:p.Leu1338Pro
XM_011522479.1:c.3980T>C	XP_011520781.1:p.Leu1327Pro
XM_011522480.1:c.3671T>C	XP_011520782.1:p.Leu1224Pro
XM_011522481.1:c.3671T>C	XP_011520783.1:p.Leu1224Pro
XR_933134.1:n.539-4880A>G
NM_001351800.1:c.3671T>C	NP_001338729.1:p.Leu1224Pro
NR_147784.1:n.3675T>C
XM_011522479.2:c.3980T>C	XP_011520781.1:p.Leu1327Pro
XM_011522481.3:c.3671T>C	XP_011520783.1:p.Leu1224Pro
XM_017023212.1:c.3845T>C	XP_016878701.1:p.Leu1282Pro
XM_024450261.1:c.4049T>C	XP_024306029.1:p.Leu1350Pro
NM_001171.6:c.4013T>C MANE Select	NP_001162.5:p.Leu1338Pro