Canonical Allele Identifier: CA2631963556

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16162967-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16162967G>A , CM000678.2:g.16162967G>A	GRCh38
NC_000016.9:g.16256824G>A , CM000678.1:g.16256824G>A	GRCh37
NC_000016.8:g.16164325G>A	NCBI36
NG_007558.2:g.65505C>T
NG_007558.3:g.65651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3506+26C>T	ENSP00000483331.2:n.3506+26C>T
ENST00000205557.12:c.3506+26C>T MANE Select	ENSP00000205557.7:n.3506+26C>T
ENST00000640696.1:c.321-1403C>T	ENSP00000492197.1:n.321-1403C>T
ENST00000205557.11:c.3506+26C>T	ENSP00000205557.7:n.3506+26C>T
ENST00000456970.6:c.3132-1403C>T	ENSP00000405002.2:n.3132-1403C>T
ENST00000622290.4:c.*715+26C>T	ENSP00000483331.1:n.*715+26C>T
NM_001171.5:c.3506+26C>T	NP_001162.4:n.3506+26C>T
XM_011522479.1:c.3473+26C>T	XP_011520781.1:n.3473+26C>T
XM_011522480.1:c.3164+26C>T	XP_011520782.1:n.3164+26C>T
XM_011522481.1:c.3164+26C>T	XP_011520783.1:n.3164+26C>T
XR_932836.1:n.3741+26C>T
XR_932837.1:n.3543-1403C>T
XR_932838.1:n.3543-1403C>T
XR_933133.1:n.407+124G>A
XR_933134.1:n.754+124G>A
NM_001351800.1:c.3164+26C>T	NP_001338729.1:n.3164+26C>T
NR_147784.1:n.3169-1403C>T
XM_011522479.2:c.3473+26C>T	XP_011520781.1:n.3473+26C>T
XM_011522481.3:c.3164+26C>T	XP_011520783.1:n.3164+26C>T
XM_017023212.1:c.3338+26C>T	XP_016878701.1:n.3338+26C>T
XM_017023214.1:c.3307-1403C>T	XP_016878703.1:n.3307-1403C>T
XM_024450261.1:c.3542+26C>T	XP_024306029.1:n.3542+26C>T
XR_932836.2:n.3687+26C>T
XR_932837.3:n.3488-1403C>T
XR_932838.3:n.3488-1403C>T
NM_001171.6:c.3506+26C>T MANE Select	NP_001162.5:n.3506+26C>T