Canonical Allele Identifier: CA394878670

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046645365
• gnomAD v3: 16-16159486-T-G
• gnomAD v4: 16-16159486-T-G
• MyVariant Identifiers: chr16:g.16253343T>G (hg19) ; chr16:g.16159486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159486T>G , CM000678.2:g.16159486T>G	GRCh38
NC_000016.9:g.16253343T>G , CM000678.1:g.16253343T>G	GRCh37
NC_000016.8:g.16160844T>G	NCBI36
NG_007558.2:g.68986A>C
NG_007558.3:g.69132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3731A>C	ENSP00000483331.2:p.Lys1244Thr
ENST00000205557.12:c.3731A>C MANE Select	ENSP00000205557.7:p.Lys1244Thr
ENST00000640696.1:c.545A>C	ENSP00000492197.1:p.Lys182Thr
ENST00000205557.11:c.3731A>C	ENSP00000205557.7:p.Lys1244Thr
ENST00000456970.6:c.3356A>C	ENSP00000405002.2:n.3356A>C
ENST00000622290.4:c.*940A>C	ENSP00000483331.1:n.*940A>C
NM_001171.5:c.3731A>C	NP_001162.4:p.Lys1244Thr
XM_011522479.1:c.3698A>C	XP_011520781.1:p.Lys1233Thr
XM_011522480.1:c.3389A>C	XP_011520782.1:p.Lys1130Thr
XM_011522481.1:c.3389A>C	XP_011520783.1:p.Lys1130Thr
XR_932836.1:n.3966A>C
XR_932837.1:n.3767A>C
XR_932838.1:n.3767A>C
XR_933134.1:n.539-295T>G
NM_001351800.1:c.3389A>C	NP_001338729.1:p.Lys1130Thr
NR_147784.1:n.3393A>C
XM_011522479.2:c.3698A>C	XP_011520781.1:p.Lys1233Thr
XM_011522481.3:c.3389A>C	XP_011520783.1:p.Lys1130Thr
XM_017023212.1:c.3563A>C	XP_016878701.1:p.Lys1188Thr
XM_024450261.1:c.3767A>C	XP_024306029.1:p.Lys1256Thr
XR_932836.2:n.3912A>C
XR_932837.3:n.3712A>C
XR_932838.3:n.3712A>C
NM_001171.6:c.3731A>C MANE Select	NP_001162.5:p.Lys1244Thr