Canonical Allele Identifier: CA394884745

Gene: ABCC6

Linked Data

• dbSNP Id: rs1159399513
• gnomAD v2: 16-16248617-T-G
• gnomAD v4: 16-16154760-T-G
• MyVariant Identifiers: chr16:g.16248617T>G (hg19) ; chr16:g.16154760T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154760T>G , CM000678.2:g.16154760T>G	GRCh38
NC_000016.9:g.16248617T>G , CM000678.1:g.16248617T>G	GRCh37
NC_000016.8:g.16156118T>G	NCBI36
NG_007558.2:g.73712A>C
NG_007558.3:g.73858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.939A>C
ENST00000622290.5:c.*248A>C	ENSP00000483331.2:n.*248A>C
ENST00000205557.12:c.4076A>C MANE Select	ENSP00000205557.7:p.Asn1359Thr
ENST00000640696.1:c.890A>C	ENSP00000492197.1:p.Asn297Thr
ENST00000205557.11:c.4076A>C	ENSP00000205557.7:p.Asn1359Thr
ENST00000456970.6:c.3701A>C	ENSP00000405002.2:n.3701A>C
ENST00000576204.5:n.939A>C
ENST00000622290.4:c.*1285A>C	ENSP00000483331.1:n.*1285A>C
NM_001171.5:c.4076A>C	NP_001162.4:p.Asn1359Thr
XM_011522479.1:c.4043A>C	XP_011520781.1:p.Asn1348Thr
XM_011522480.1:c.3734A>C	XP_011520782.1:p.Asn1245Thr
XM_011522481.1:c.3734A>C	XP_011520783.1:p.Asn1245Thr
XR_933134.1:n.539-5021T>G
NM_001351800.1:c.3734A>C	NP_001338729.1:p.Asn1245Thr
NR_147784.1:n.3738A>C
XM_011522479.2:c.4043A>C	XP_011520781.1:p.Asn1348Thr
XM_011522481.3:c.3734A>C	XP_011520783.1:p.Asn1245Thr
XM_017023212.1:c.3908A>C	XP_016878701.1:p.Asn1303Thr
XM_024450261.1:c.4112A>C	XP_024306029.1:p.Asn1371Thr
NM_001171.6:c.4076A>C MANE Select	NP_001162.5:p.Asn1359Thr