Canonical Allele Identifier: CA484788851

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110822898C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170551C>G , CM000675.2:g.110170551C>G	GRCh38
NC_000013.10:g.110822898C>G , CM000675.1:g.110822898C>G	GRCh37
NC_000013.9:g.109620899C>G	NCBI36
NG_011544.2:g.141599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3738G>C MANE Select	ENSP00000364979.4:p.Leu1246=
ENST00000375820.8:c.3738G>C	ENSP00000364979.4:p.Leu1246=
NM_001845.5:c.3738G>C	NP_001836.3:p.Leu1246=
XM_011521048.1:c.3546G>C	XP_011519350.1:p.Leu1182=
XM_011521048.2:c.3546G>C	XP_011519350.1:p.Leu1182=
NM_001845.6:c.3738G>C MANE Select	NP_001836.3:p.Leu1246=