Canonical Allele Identifier: CA388664359

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110174467-G-A
• MyVariant Identifiers: chr13:g.110826814G>A (hg19) ; chr13:g.110174467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110174467G>A , CM000675.2:g.110174467G>A	GRCh38
NC_000013.10:g.110826814G>A , CM000675.1:g.110826814G>A	GRCh37
NC_000013.9:g.109624815G>A	NCBI36
NG_011544.2:g.137683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3385C>T MANE Select	ENSP00000364979.4:p.Pro1129Ser
ENST00000375820.8:c.3385C>T	ENSP00000364979.4:p.Pro1129Ser
NM_001845.5:c.3385C>T	NP_001836.3:p.Pro1129Ser
XM_011521048.1:c.3193C>T	XP_011519350.1:p.Pro1065Ser
XM_011521048.2:c.3193C>T	XP_011519350.1:p.Pro1065Ser
NM_001845.6:c.3385C>T MANE Select	NP_001836.3:p.Pro1129Ser