Canonical Allele Identifier: CA278625898

Gene: ABCC6

Linked Data

• dbSNP Id: rs948568335
• gnomAD v2: 16-16249132-C-G
• gnomAD v3: 16-16155275-C-G
• gnomAD v4: 16-16155275-C-G
• MyVariant Identifiers: chr16:g.16249132C>G (hg19) ; chr16:g.16155275C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155275C>G , CM000678.2:g.16155275C>G	GRCh38
NC_000016.9:g.16249132C>G , CM000678.1:g.16249132C>G	GRCh37
NC_000016.8:g.16156633C>G	NCBI36
NG_007558.2:g.73197G>C
NG_007558.3:g.73343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.502G>C
ENST00000622290.5:c.*55-244G>C	ENSP00000483331.2:n.*55-244G>C
ENST00000205557.12:c.3883-244G>C MANE Select	ENSP00000205557.7:n.3883-244G>C
ENST00000640696.1:c.697-244G>C	ENSP00000492197.1:n.697-244G>C
ENST00000205557.11:c.3883-244G>C	ENSP00000205557.7:n.3883-244G>C
ENST00000456970.6:c.3508-244G>C	ENSP00000405002.2:n.3508-244G>C
ENST00000576204.5:n.502G>C
ENST00000622290.4:c.*1092-244G>C	ENSP00000483331.1:n.*1092-244G>C
NM_001171.5:c.3883-244G>C	NP_001162.4:n.3883-244G>C
XM_011522479.1:c.3850-244G>C	XP_011520781.1:n.3850-244G>C
XM_011522480.1:c.3541-244G>C	XP_011520782.1:n.3541-244G>C
XM_011522481.1:c.3541-244G>C	XP_011520783.1:n.3541-244G>C
XR_932836.1:n.4181-244G>C
XR_932837.1:n.3919-244G>C
XR_932838.1:n.3982-244G>C
XR_933134.1:n.539-4506C>G
NM_001351800.1:c.3541-244G>C	NP_001338729.1:n.3541-244G>C
NR_147784.1:n.3545-244G>C
XM_011522479.2:c.3850-244G>C	XP_011520781.1:n.3850-244G>C
XM_011522481.3:c.3541-244G>C	XP_011520783.1:n.3541-244G>C
XM_017023212.1:c.3715-244G>C	XP_016878701.1:n.3715-244G>C
XM_024450261.1:c.3919-244G>C	XP_024306029.1:n.3919-244G>C
XR_932836.2:n.4127-244G>C
XR_932837.3:n.3864-244G>C
XR_932838.3:n.3927-244G>C
NM_001171.6:c.3883-244G>C MANE Select	NP_001162.5:n.3883-244G>C