Canonical Allele Identifier: CA493797493

Gene: ABCC6

Linked Data

• dbSNP Id: rs1236357759
• gnomAD v2: 16-16248883-G-A
• gnomAD v4: 16-16155026-G-A
• MyVariant Identifiers: chr16:g.16248883G>A (hg19) ; chr16:g.16155026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155026G>A , CM000678.2:g.16155026G>A	GRCh38
NC_000016.9:g.16248883G>A , CM000678.1:g.16248883G>A	GRCh37
NC_000016.8:g.16156384G>A	NCBI36
NG_007558.2:g.73446C>T
NG_007558.3:g.73592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.751C>T
ENST00000622290.5:c.*60C>T	ENSP00000483331.2:n.*60C>T
ENST00000205557.12:c.3888C>T MANE Select	ENSP00000205557.7:p.Gly1296=
ENST00000640696.1:c.702C>T	ENSP00000492197.1:p.Gly234=
ENST00000205557.11:c.3888C>T	ENSP00000205557.7:p.Gly1296=
ENST00000456970.6:c.3513C>T	ENSP00000405002.2:n.3513C>T
ENST00000576204.5:n.751C>T
ENST00000622290.4:c.*1097C>T	ENSP00000483331.1:n.*1097C>T
NM_001171.5:c.3888C>T	NP_001162.4:p.Gly1296=
XM_011522479.1:c.3855C>T	XP_011520781.1:p.Gly1285=
XM_011522480.1:c.3546C>T	XP_011520782.1:p.Gly1182=
XM_011522481.1:c.3546C>T	XP_011520783.1:p.Gly1182=
XR_932836.1:n.4186C>T
XR_932837.1:n.3924C>T
XR_932838.1:n.3987C>T
XR_933134.1:n.539-4755G>A
NM_001351800.1:c.3546C>T	NP_001338729.1:p.Gly1182=
NR_147784.1:n.3550C>T
XM_011522479.2:c.3855C>T	XP_011520781.1:p.Gly1285=
XM_011522481.3:c.3546C>T	XP_011520783.1:p.Gly1182=
XM_017023212.1:c.3720C>T	XP_016878701.1:p.Gly1240=
XM_024450261.1:c.3924C>T	XP_024306029.1:p.Gly1308=
XR_932836.2:n.4132C>T
XR_932837.3:n.3869C>T
XR_932838.3:n.3932C>T
NM_001171.6:c.3888C>T MANE Select	NP_001162.5:p.Gly1296=