Canonical Allele Identifier: CA7925374

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433335
• ClinVar RCV Id: RCV000499103 ; RCV001857048
• dbSNP Id: rs63750410
• ExAC: 16:16248864 C / G
• gnomAD v2: 16-16248864-C-G
• gnomAD v3: 16-16155007-C-G
• gnomAD v4: 16-16155007-C-G
• MyVariant Identifiers: chr16:g.16248864C>G (hg19) ; chr16:g.16155007C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.770G>C
ENST00000622290.5:c.*79G>C	ENSP00000483331.2:n.*79G>C
ENST00000205557.12:c.3907G>C MANE Select	ENSP00000205557.7:p.Ala1303Pro
ENST00000640696.1:c.721G>C	ENSP00000492197.1:p.Ala241Pro
ENST00000205557.11:c.3907G>C	ENSP00000205557.7:p.Ala1303Pro
ENST00000456970.6:c.3532G>C	ENSP00000405002.2:n.3532G>C
ENST00000576204.5:n.770G>C
ENST00000622290.4:c.*1116G>C	ENSP00000483331.1:n.*1116G>C
NM_001171.5:c.3907G>C	NP_001162.4:p.Ala1303Pro
XM_011522479.1:c.3874G>C	XP_011520781.1:p.Ala1292Pro
XM_011522480.1:c.3565G>C	XP_011520782.1:p.Ala1189Pro
XM_011522481.1:c.3565G>C	XP_011520783.1:p.Ala1189Pro
XR_932836.1:n.4205G>C
XR_932837.1:n.3943G>C
XR_932838.1:n.4006G>C
XR_933134.1:n.539-4774C>G
NM_001351800.1:c.3565G>C	NP_001338729.1:p.Ala1189Pro
NR_147784.1:n.3569G>C
XM_011522479.2:c.3874G>C	XP_011520781.1:p.Ala1292Pro
XM_011522481.3:c.3565G>C	XP_011520783.1:p.Ala1189Pro
XM_017023212.1:c.3739G>C	XP_016878701.1:p.Ala1247Pro
XM_024450261.1:c.3943G>C	XP_024306029.1:p.Ala1315Pro
XR_932836.2:n.4151G>C
XR_932837.3:n.3888G>C
XR_932838.3:n.3951G>C
NM_001171.6:c.3907G>C MANE Select	NP_001162.5:p.Ala1303Pro