Canonical Allele Identifier: CA7925338

Gene: ABCC6

Linked Data

• dbSNP Id: rs763399476
• ExAC: 16:16248696 T / G
• gnomAD v2: 16-16248696-T-G
• MyVariant Identifiers: chr16:g.16248696T>G (hg19) ; chr16:g.16154839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154839T>G , CM000678.2:g.16154839T>G	GRCh38
NC_000016.9:g.16248696T>G , CM000678.1:g.16248696T>G	GRCh37
NC_000016.8:g.16156197T>G	NCBI36
NG_007558.2:g.73633A>C
NG_007558.3:g.73779A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.904+34A>C
ENST00000622290.5:c.*213+34A>C	ENSP00000483331.2:n.*213+34A>C
ENST00000205557.12:c.4041+34A>C MANE Select	ENSP00000205557.7:n.4041+34A>C
ENST00000640696.1:c.855+34A>C	ENSP00000492197.1:n.855+34A>C
ENST00000205557.11:c.4041+34A>C	ENSP00000205557.7:n.4041+34A>C
ENST00000456970.6:c.3666+34A>C	ENSP00000405002.2:n.3666+34A>C
ENST00000576204.5:n.904+34A>C
ENST00000622290.4:c.*1250+34A>C	ENSP00000483331.1:n.*1250+34A>C
NM_001171.5:c.4041+34A>C	NP_001162.4:n.4041+34A>C
XM_011522479.1:c.4008+34A>C	XP_011520781.1:n.4008+34A>C
XM_011522480.1:c.3699+34A>C	XP_011520782.1:n.3699+34A>C
XM_011522481.1:c.3699+34A>C	XP_011520783.1:n.3699+34A>C
XR_933134.1:n.539-4942T>G
NM_001351800.1:c.3699+34A>C	NP_001338729.1:n.3699+34A>C
NR_147784.1:n.3703+34A>C
XM_011522479.2:c.4008+34A>C	XP_011520781.1:n.4008+34A>C
XM_011522481.3:c.3699+34A>C	XP_011520783.1:n.3699+34A>C
XM_017023212.1:c.3873+34A>C	XP_016878701.1:n.3873+34A>C
XM_024450261.1:c.4077+34A>C	XP_024306029.1:n.4077+34A>C
NM_001171.6:c.4041+34A>C MANE Select	NP_001162.5:n.4041+34A>C