Canonical Allele Identifier: CA394878665

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046645244
• gnomAD v4: 16-16159484-C-T
• COSMIC: COSM4545220
• MyVariant Identifiers: chr16:g.16253341C>T (hg19) ; chr16:g.16159484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159484C>T , CM000678.2:g.16159484C>T	GRCh38
NC_000016.9:g.16253341C>T , CM000678.1:g.16253341C>T	GRCh37
NC_000016.8:g.16160842C>T	NCBI36
NG_007558.2:g.68988G>A
NG_007558.3:g.69134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3733G>A	ENSP00000483331.2:p.Glu1245Lys
ENST00000205557.12:c.3733G>A MANE Select	ENSP00000205557.7:p.Glu1245Lys
ENST00000640696.1:c.547G>A	ENSP00000492197.1:p.Glu183Lys
ENST00000205557.11:c.3733G>A	ENSP00000205557.7:p.Glu1245Lys
ENST00000456970.6:c.3358G>A	ENSP00000405002.2:n.3358G>A
ENST00000622290.4:c.*942G>A	ENSP00000483331.1:n.*942G>A
NM_001171.5:c.3733G>A	NP_001162.4:p.Glu1245Lys
XM_011522479.1:c.3700G>A	XP_011520781.1:p.Glu1234Lys
XM_011522480.1:c.3391G>A	XP_011520782.1:p.Glu1131Lys
XM_011522481.1:c.3391G>A	XP_011520783.1:p.Glu1131Lys
XR_932836.1:n.3968G>A
XR_932837.1:n.3769G>A
XR_932838.1:n.3769G>A
XR_933134.1:n.539-297C>T
NM_001351800.1:c.3391G>A	NP_001338729.1:p.Glu1131Lys
NR_147784.1:n.3395G>A
XM_011522479.2:c.3700G>A	XP_011520781.1:p.Glu1234Lys
XM_011522481.3:c.3391G>A	XP_011520783.1:p.Glu1131Lys
XM_017023212.1:c.3565G>A	XP_016878701.1:p.Glu1189Lys
XM_024450261.1:c.3769G>A	XP_024306029.1:p.Glu1257Lys
XR_932836.2:n.3914G>A
XR_932837.3:n.3714G>A
XR_932838.3:n.3714G>A
NM_001171.6:c.3733G>A MANE Select	NP_001162.5:p.Glu1245Lys