Canonical Allele Identifier: CA2623674587

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110179181-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179181A>C , CM000675.2:g.110179181A>C	GRCh38
NC_000013.10:g.110831528A>C , CM000675.1:g.110831528A>C	GRCh37
NC_000013.9:g.109629529A>C	NCBI36
NG_011544.2:g.132969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+90T>G MANE Select	ENSP00000364979.4:n.2344+90T>G
ENST00000649738.1:n.2474+90T>G
ENST00000375820.8:c.2344+90T>G	ENSP00000364979.4:n.2344+90T>G
NM_001845.5:c.2344+90T>G	NP_001836.3:n.2344+90T>G
XM_011521048.1:c.2152+90T>G	XP_011519350.1:n.2152+90T>G
XM_011521048.2:c.2152+90T>G	XP_011519350.1:n.2152+90T>G
NM_001845.6:c.2344+90T>G MANE Select	NP_001836.3:n.2344+90T>G