Canonical Allele Identifier: CA7925373

Gene: ABCC6

Linked Data

• dbSNP Id: rs63750410
• ExAC: 16:16248864 C / T
• gnomAD v2: 16-16248864-C-T
• gnomAD v3: 16-16155007-C-T
• gnomAD v4: 16-16155007-C-T
• MyVariant Identifiers: chr16:g.16248864C>T (hg19) ; chr16:g.16155007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155007C>T , CM000678.2:g.16155007C>T	GRCh38
NC_000016.9:g.16248864C>T , CM000678.1:g.16248864C>T	GRCh37
NC_000016.8:g.16156365C>T	NCBI36
NG_007558.2:g.73465G>A
NG_007558.3:g.73611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.770G>A
ENST00000622290.5:c.*79G>A	ENSP00000483331.2:n.*79G>A
ENST00000205557.12:c.3907G>A MANE Select	ENSP00000205557.7:p.Ala1303Thr
ENST00000640696.1:c.721G>A	ENSP00000492197.1:p.Ala241Thr
ENST00000205557.11:c.3907G>A	ENSP00000205557.7:p.Ala1303Thr
ENST00000456970.6:c.3532G>A	ENSP00000405002.2:n.3532G>A
ENST00000576204.5:n.770G>A
ENST00000622290.4:c.*1116G>A	ENSP00000483331.1:n.*1116G>A
NM_001171.5:c.3907G>A	NP_001162.4:p.Ala1303Thr
XM_011522479.1:c.3874G>A	XP_011520781.1:p.Ala1292Thr
XM_011522480.1:c.3565G>A	XP_011520782.1:p.Ala1189Thr
XM_011522481.1:c.3565G>A	XP_011520783.1:p.Ala1189Thr
XR_932836.1:n.4205G>A
XR_932837.1:n.3943G>A
XR_932838.1:n.4006G>A
XR_933134.1:n.539-4774C>T
NM_001351800.1:c.3565G>A	NP_001338729.1:p.Ala1189Thr
NR_147784.1:n.3569G>A
XM_011522479.2:c.3874G>A	XP_011520781.1:p.Ala1292Thr
XM_011522481.3:c.3565G>A	XP_011520783.1:p.Ala1189Thr
XM_017023212.1:c.3739G>A	XP_016878701.1:p.Ala1247Thr
XM_024450261.1:c.3943G>A	XP_024306029.1:p.Ala1315Thr
XR_932836.2:n.4151G>A
XR_932837.3:n.3888G>A
XR_932838.3:n.3951G>A
NM_001171.6:c.3907G>A MANE Select	NP_001162.5:p.Ala1303Thr