Canonical Allele Identifier: CA394875603

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154928-G-T
• MyVariant Identifiers: chr16:g.16248785G>T (hg19) ; chr16:g.16154928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154928G>T , CM000678.2:g.16154928G>T	GRCh38
NC_000016.9:g.16248785G>T , CM000678.1:g.16248785G>T	GRCh37
NC_000016.8:g.16156286G>T	NCBI36
NG_007558.2:g.73544C>A
NG_007558.3:g.73690C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.849C>A
ENST00000622290.5:c.*158C>A	ENSP00000483331.2:n.*158C>A
ENST00000205557.12:c.3986C>A MANE Select	ENSP00000205557.7:p.Pro1329His
ENST00000640696.1:c.800C>A	ENSP00000492197.1:p.Pro267His
ENST00000205557.11:c.3986C>A	ENSP00000205557.7:p.Pro1329His
ENST00000456970.6:c.3611C>A	ENSP00000405002.2:n.3611C>A
ENST00000576204.5:n.849C>A
ENST00000622290.4:c.*1195C>A	ENSP00000483331.1:n.*1195C>A
NM_001171.5:c.3986C>A	NP_001162.4:p.Pro1329His
XM_011522479.1:c.3953C>A	XP_011520781.1:p.Pro1318His
XM_011522480.1:c.3644C>A	XP_011520782.1:p.Pro1215His
XM_011522481.1:c.3644C>A	XP_011520783.1:p.Pro1215His
XR_933134.1:n.539-4853G>T
NM_001351800.1:c.3644C>A	NP_001338729.1:p.Pro1215His
NR_147784.1:n.3648C>A
XM_011522479.2:c.3953C>A	XP_011520781.1:p.Pro1318His
XM_011522481.3:c.3644C>A	XP_011520783.1:p.Pro1215His
XM_017023212.1:c.3818C>A	XP_016878701.1:p.Pro1273His
XM_024450261.1:c.4022C>A	XP_024306029.1:p.Pro1341His
NM_001171.6:c.3986C>A MANE Select	NP_001162.5:p.Pro1329His