Canonical Allele Identifier: CA278631315

Gene: ABCC6

Linked Data

• dbSNP Id: rs1002867234
• gnomAD v2: 16-16256781-T-G
• gnomAD v3: 16-16162924-T-G
• gnomAD v4: 16-16162924-T-G
• MyVariant Identifiers: chr16:g.16256781T>G (hg19) ; chr16:g.16162924T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16162924T>G , CM000678.2:g.16162924T>G	GRCh38
NC_000016.9:g.16256781T>G , CM000678.1:g.16256781T>G	GRCh37
NC_000016.8:g.16164282T>G	NCBI36
NG_007558.2:g.65548A>C
NG_007558.3:g.65694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3506+69A>C	ENSP00000483331.2:n.3506+69A>C
ENST00000205557.12:c.3506+69A>C MANE Select	ENSP00000205557.7:n.3506+69A>C
ENST00000640696.1:c.321-1360A>C	ENSP00000492197.1:n.321-1360A>C
ENST00000205557.11:c.3506+69A>C	ENSP00000205557.7:n.3506+69A>C
ENST00000456970.6:c.3132-1360A>C	ENSP00000405002.2:n.3132-1360A>C
ENST00000622290.4:c.*715+69A>C	ENSP00000483331.1:n.*715+69A>C
NM_001171.5:c.3506+69A>C	NP_001162.4:n.3506+69A>C
XM_011522479.1:c.3473+69A>C	XP_011520781.1:n.3473+69A>C
XM_011522480.1:c.3164+69A>C	XP_011520782.1:n.3164+69A>C
XM_011522481.1:c.3164+69A>C	XP_011520783.1:n.3164+69A>C
XR_932836.1:n.3741+69A>C
XR_932837.1:n.3543-1360A>C
XR_932838.1:n.3543-1360A>C
XR_933133.1:n.407+81T>G
XR_933134.1:n.754+81T>G
NM_001351800.1:c.3164+69A>C	NP_001338729.1:n.3164+69A>C
NR_147784.1:n.3169-1360A>C
XM_011522479.2:c.3473+69A>C	XP_011520781.1:n.3473+69A>C
XM_011522481.3:c.3164+69A>C	XP_011520783.1:n.3164+69A>C
XM_017023212.1:c.3338+69A>C	XP_016878701.1:n.3338+69A>C
XM_017023214.1:c.3307-1360A>C	XP_016878703.1:n.3307-1360A>C
XM_024450261.1:c.3542+69A>C	XP_024306029.1:n.3542+69A>C
XR_932836.2:n.3687+69A>C
XR_932837.3:n.3488-1360A>C
XR_932838.3:n.3488-1360A>C
NM_001171.6:c.3506+69A>C MANE Select	NP_001162.5:n.3506+69A>C