Canonical Allele Identifier: CA394881465

Gene: ABCC6

Linked Data

• dbSNP Id: rs1245768823
• gnomAD v2: 16-16256952-G-C
• gnomAD v3: 16-16163095-G-C
• gnomAD v4: 16-16163095-G-C
• MyVariant Identifiers: chr16:g.16256952G>C (hg19) ; chr16:g.16163095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163095G>C , CM000678.2:g.16163095G>C	GRCh38
NC_000016.9:g.16256952G>C , CM000678.1:g.16256952G>C	GRCh37
NC_000016.8:g.16164453G>C	NCBI36
NG_007558.2:g.65377C>G
NG_007558.3:g.65523C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3404C>G	ENSP00000483331.2:p.Thr1135Arg
ENST00000205557.12:c.3404C>G MANE Select	ENSP00000205557.7:p.Thr1135Arg
ENST00000640696.1:c.321-1531C>G	ENSP00000492197.1:n.321-1531C>G
ENST00000205557.11:c.3404C>G	ENSP00000205557.7:p.Thr1135Arg
ENST00000456970.6:c.3132-1531C>G	ENSP00000405002.2:n.3132-1531C>G
ENST00000622290.4:c.*613C>G	ENSP00000483331.1:n.*613C>G
NM_001171.5:c.3404C>G	NP_001162.4:p.Thr1135Arg
XM_011522479.1:c.3371C>G	XP_011520781.1:p.Thr1124Arg
XM_011522480.1:c.3062C>G	XP_011520782.1:p.Thr1021Arg
XM_011522481.1:c.3062C>G	XP_011520783.1:p.Thr1021Arg
XR_932836.1:n.3639C>G
XR_932837.1:n.3543-1531C>G
XR_932838.1:n.3543-1531C>G
XR_933133.1:n.407+252G>C
XR_933134.1:n.754+252G>C
NM_001351800.1:c.3062C>G	NP_001338729.1:p.Thr1021Arg
NR_147784.1:n.3169-1531C>G
XM_011522479.2:c.3371C>G	XP_011520781.1:p.Thr1124Arg
XM_011522481.3:c.3062C>G	XP_011520783.1:p.Thr1021Arg
XM_017023212.1:c.3236C>G	XP_016878701.1:p.Thr1079Arg
XM_017023214.1:c.3307-1531C>G	XP_016878703.1:n.3307-1531C>G
XM_024450261.1:c.3440C>G	XP_024306029.1:p.Thr1147Arg
XR_932836.2:n.3585C>G
XR_932837.3:n.3488-1531C>G
XR_932838.3:n.3488-1531C>G
NM_001171.6:c.3404C>G MANE Select	NP_001162.5:p.Thr1135Arg