Canonical Allele Identifier: CA2581156456

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179187A>C , CM000675.2:g.110179187A>C	GRCh38
NC_000013.10:g.110831534A>C , CM000675.1:g.110831534A>C	GRCh37
NC_000013.9:g.109629535A>C	NCBI36
NG_011544.2:g.132963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+84T>G MANE Select	ENSP00000364979.4:n.2344+84T>G
ENST00000649738.1:n.2474+84T>G
ENST00000375820.8:c.2344+84T>G	ENSP00000364979.4:n.2344+84T>G
NM_001845.5:c.2344+84T>G	NP_001836.3:n.2344+84T>G
XM_011521048.1:c.2152+84T>G	XP_011519350.1:n.2152+84T>G
XM_011521048.2:c.2152+84T>G	XP_011519350.1:n.2152+84T>G
NM_001845.6:c.2344+84T>G MANE Select	NP_001836.3:n.2344+84T>G