Canonical Allele Identifier: CA2800581038

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170026A>C , CM000675.2:g.110170026A>C	GRCh38
NC_000013.10:g.110822373A>C , CM000675.1:g.110822373A>C	GRCh37
NC_000013.9:g.109620374A>C	NCBI36
NG_011544.2:g.142124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-264T>G MANE Select	ENSP00000364979.4:n.3743-264T>G
ENST00000375820.8:c.3743-264T>G	ENSP00000364979.4:n.3743-264T>G
NM_001845.5:c.3743-264T>G	NP_001836.3:n.3743-264T>G
XM_011521048.1:c.3551-264T>G	XP_011519350.1:n.3551-264T>G
XM_011521048.2:c.3551-264T>G	XP_011519350.1:n.3551-264T>G
NM_001845.6:c.3743-264T>G MANE Select	NP_001836.3:n.3743-264T>G