Canonical Allele Identifier: CA493798947

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1900747
• ClinVar RCV Id: RCV002585873
• dbSNP Id: rs1258279605
• gnomAD v2: 16-16256873-A-G
• gnomAD v3: 16-16163016-A-G
• gnomAD v4: 16-16163016-A-G
• MyVariant Identifiers: chr16:g.16256873A>G (hg19) ; chr16:g.16163016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163016A>G , CM000678.2:g.16163016A>G	GRCh38
NC_000016.9:g.16256873A>G , CM000678.1:g.16256873A>G	GRCh37
NC_000016.8:g.16164374A>G	NCBI36
NG_007558.2:g.65456T>C
NG_007558.3:g.65602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3483T>C	ENSP00000483331.2:p.Ser1161=
ENST00000205557.12:c.3483T>C MANE Select	ENSP00000205557.7:p.Ser1161=
ENST00000640696.1:c.321-1452T>C	ENSP00000492197.1:n.321-1452T>C
ENST00000205557.11:c.3483T>C	ENSP00000205557.7:p.Ser1161=
ENST00000456970.6:c.3132-1452T>C	ENSP00000405002.2:n.3132-1452T>C
ENST00000622290.4:c.*692T>C	ENSP00000483331.1:n.*692T>C
NM_001171.5:c.3483T>C	NP_001162.4:p.Ser1161=
XM_011522479.1:c.3450T>C	XP_011520781.1:p.Ser1150=
XM_011522480.1:c.3141T>C	XP_011520782.1:p.Ser1047=
XM_011522481.1:c.3141T>C	XP_011520783.1:p.Ser1047=
XR_932836.1:n.3718T>C
XR_932837.1:n.3543-1452T>C
XR_932838.1:n.3543-1452T>C
XR_933133.1:n.407+173A>G
XR_933134.1:n.754+173A>G
NM_001351800.1:c.3141T>C	NP_001338729.1:p.Ser1047=
NR_147784.1:n.3169-1452T>C
XM_011522479.2:c.3450T>C	XP_011520781.1:p.Ser1150=
XM_011522481.3:c.3141T>C	XP_011520783.1:p.Ser1047=
XM_017023212.1:c.3315T>C	XP_016878701.1:p.Ser1105=
XM_017023214.1:c.3307-1452T>C	XP_016878703.1:n.3307-1452T>C
XM_024450261.1:c.3519T>C	XP_024306029.1:p.Ser1173=
XR_932836.2:n.3664T>C
XR_932837.3:n.3488-1452T>C
XR_932838.3:n.3488-1452T>C
NM_001171.6:c.3483T>C MANE Select	NP_001162.5:p.Ser1161=