Canonical Allele Identifier: CA612612355

Gene: COL4A1

Linked Data

• dbSNP Id: rs1457192591
• gnomAD v2: 13-110864853-C-T
• gnomAD v4: 13-110212506-C-T
• MyVariant Identifiers: chr13:g.110864853C>T (hg19) ; chr13:g.110212506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212506C>T , CM000675.2:g.110212506C>T	GRCh38
NC_000013.10:g.110864853C>T , CM000675.1:g.110864853C>T	GRCh37
NC_000013.9:g.109662854C>T	NCBI36
NG_011544.2:g.99644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.325-27G>A MANE Select	ENSP00000364979.4:n.325-27G>A
ENST00000543140.6:c.325-27G>A	ENSP00000443348.1:n.325-27G>A
ENST00000615732.2:c.133-27G>A	ENSP00000478222.2:n.133-27G>A
ENST00000647797.1:c.204-27G>A
ENST00000648170.1:n.204-27G>A
ENST00000648966.1:c.204-27G>A
ENST00000649484.1:c.204-27G>A
ENST00000649738.1:n.455-27G>A
ENST00000650138.1:n.14-27G>A
ENST00000375820.8:c.325-27G>A	ENSP00000364979.4:n.325-27G>A
ENST00000543140.5:c.325-27G>A	ENSP00000443348.1:n.325-27G>A
ENST00000615732.1:c.133-27G>A	ENSP00000478222.1:n.133-27G>A
NM_001303110.1:c.325-27G>A	NP_001290039.1:n.325-27G>A
NM_001845.5:c.325-27G>A	NP_001836.3:n.325-27G>A
XM_011521048.1:c.133-27G>A	XP_011519350.1:n.133-27G>A
XM_011521048.2:c.133-27G>A	XP_011519350.1:n.133-27G>A
NM_001845.6:c.325-27G>A MANE Select	NP_001836.3:n.325-27G>A
NM_001303110.2:c.325-27G>A	NP_001290039.1:n.325-27G>A