Canonical Allele Identifier: CA388664392

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110826829C>T (hg19) ; chr13:g.110174482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110174482C>T , CM000675.2:g.110174482C>T	GRCh38
NC_000013.10:g.110826829C>T , CM000675.1:g.110826829C>T	GRCh37
NC_000013.9:g.109624830C>T	NCBI36
NG_011544.2:g.137668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3370G>A MANE Select	ENSP00000364979.4:p.Gly1124Arg
ENST00000375820.8:c.3370G>A	ENSP00000364979.4:p.Gly1124Arg
NM_001845.5:c.3370G>A	NP_001836.3:p.Gly1124Arg
XM_011521048.1:c.3178G>A	XP_011519350.1:p.Gly1060Arg
XM_011521048.2:c.3178G>A	XP_011519350.1:p.Gly1060Arg
NM_001845.6:c.3370G>A MANE Select	NP_001836.3:p.Gly1124Arg