Canonical Allele Identifier: CA278631353

Gene: ABCC6

Linked Data

• dbSNP Id: rs143854720
• gnomAD v2: 16-16256854-C-G
• gnomAD v4: 16-16162997-C-G
• MyVariant Identifiers: chr16:g.16256854C>G (hg19) ; chr16:g.16162997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16162997C>G , CM000678.2:g.16162997C>G	GRCh38
NC_000016.9:g.16256854C>G , CM000678.1:g.16256854C>G	GRCh37
NC_000016.8:g.16164355C>G	NCBI36
NG_007558.2:g.65475G>C
NG_007558.3:g.65621G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3502G>C	ENSP00000483331.2:p.Asp1168His
ENST00000205557.12:c.3502G>C MANE Select	ENSP00000205557.7:p.Asp1168His
ENST00000640696.1:c.321-1433G>C	ENSP00000492197.1:n.321-1433G>C
ENST00000205557.11:c.3502G>C	ENSP00000205557.7:p.Asp1168His
ENST00000456970.6:c.3132-1433G>C	ENSP00000405002.2:n.3132-1433G>C
ENST00000622290.4:c.*711G>C	ENSP00000483331.1:n.*711G>C
NM_001171.5:c.3502G>C	NP_001162.4:p.Asp1168His
XM_011522479.1:c.3469G>C	XP_011520781.1:p.Asp1157His
XM_011522480.1:c.3160G>C	XP_011520782.1:p.Asp1054His
XM_011522481.1:c.3160G>C	XP_011520783.1:p.Asp1054His
XR_932836.1:n.3737G>C
XR_932837.1:n.3543-1433G>C
XR_932838.1:n.3543-1433G>C
XR_933133.1:n.407+154C>G
XR_933134.1:n.754+154C>G
NM_001351800.1:c.3160G>C	NP_001338729.1:p.Asp1054His
NR_147784.1:n.3169-1433G>C
XM_011522479.2:c.3469G>C	XP_011520781.1:p.Asp1157His
XM_011522481.3:c.3160G>C	XP_011520783.1:p.Asp1054His
XM_017023212.1:c.3334G>C	XP_016878701.1:p.Asp1112His
XM_017023214.1:c.3307-1433G>C	XP_016878703.1:n.3307-1433G>C
XM_024450261.1:c.3538G>C	XP_024306029.1:p.Asp1180His
XR_932836.2:n.3683G>C
XR_932837.3:n.3488-1433G>C
XR_932838.3:n.3488-1433G>C
NM_001171.6:c.3502G>C MANE Select	NP_001162.5:p.Asp1168His