Canonical Allele Identifier: CA484788815

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110822105A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169758A>T , CM000675.2:g.110169758A>T	GRCh38
NC_000013.10:g.110822105A>T , CM000675.1:g.110822105A>T	GRCh37
NC_000013.9:g.109620106A>T	NCBI36
NG_011544.2:g.142392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3747T>A MANE Select	ENSP00000364979.4:p.Leu1249=
ENST00000375820.8:c.3747T>A	ENSP00000364979.4:p.Leu1249=
NM_001845.5:c.3747T>A	NP_001836.3:p.Leu1249=
XM_011521048.1:c.3555T>A	XP_011519350.1:p.Leu1185=
XM_011521048.2:c.3555T>A	XP_011519350.1:p.Leu1185=
NM_001845.6:c.3747T>A MANE Select	NP_001836.3:p.Leu1249=