Canonical Allele Identifier: CA493799710

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154756-G-C
• MyVariant Identifiers: chr16:g.16248613G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154756G>C , CM000678.2:g.16154756G>C	GRCh38
NC_000016.9:g.16248613G>C , CM000678.1:g.16248613G>C	GRCh37
NC_000016.8:g.16156114G>C	NCBI36
NG_007558.2:g.73716C>G
NG_007558.3:g.73862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.943C>G
ENST00000622290.5:c.*252C>G	ENSP00000483331.2:n.*252C>G
ENST00000205557.12:c.4080C>G MANE Select	ENSP00000205557.7:p.Leu1360=
ENST00000640696.1:c.894C>G	ENSP00000492197.1:p.Leu298=
ENST00000205557.11:c.4080C>G	ENSP00000205557.7:p.Leu1360=
ENST00000456970.6:c.3705C>G	ENSP00000405002.2:n.3705C>G
ENST00000576204.5:n.943C>G
ENST00000622290.4:c.*1289C>G	ENSP00000483331.1:n.*1289C>G
NM_001171.5:c.4080C>G	NP_001162.4:p.Leu1360=
XM_011522479.1:c.4047C>G	XP_011520781.1:p.Leu1349=
XM_011522480.1:c.3738C>G	XP_011520782.1:p.Leu1246=
XM_011522481.1:c.3738C>G	XP_011520783.1:p.Leu1246=
XR_933134.1:n.539-5025G>C
NM_001351800.1:c.3738C>G	NP_001338729.1:p.Leu1246=
NR_147784.1:n.3742C>G
XM_011522479.2:c.4047C>G	XP_011520781.1:p.Leu1349=
XM_011522481.3:c.3738C>G	XP_011520783.1:p.Leu1246=
XM_017023212.1:c.3912C>G	XP_016878701.1:p.Leu1304=
XM_024450261.1:c.4116C>G	XP_024306029.1:p.Leu1372=
NM_001171.6:c.4080C>G MANE Select	NP_001162.5:p.Leu1360=