Canonical Allele Identifier: CA204636

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 208663
• ClinVar RCV Id: RCV000190674 ; RCV001532731 ; RCV002283465 ; RCV002247615 ; RCV003335188
• dbSNP Id: rs797044867
• COSMIC: COSM3369012
• MyVariant Identifiers: chr13:g.110830543C>T (hg19) ; chr13:g.110178196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110178196C>T , CM000675.2:g.110178196C>T	GRCh38
NC_000013.10:g.110830543C>T , CM000675.1:g.110830543C>T	GRCh37
NC_000013.9:g.109628544C>T	NCBI36
NG_011544.2:g.133954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2494G>A MANE Select	ENSP00000364979.4:p.Gly832Arg
ENST00000375820.8:c.2494G>A	ENSP00000364979.4:p.Gly832Arg
NM_001845.5:c.2494G>A	NP_001836.3:p.Gly832Arg
XM_011521048.1:c.2302G>A	XP_011519350.1:p.Gly768Arg
XM_011521048.2:c.2302G>A	XP_011519350.1:p.Gly768Arg
NM_001845.6:c.2494G>A MANE Select	NP_001836.3:p.Gly832Arg