Canonical Allele Identifier: CA388724495

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110201524T>C , CM000675.2:g.110201524T>C	GRCh38
NC_000013.10:g.110853871T>C , CM000675.1:g.110853871T>C	GRCh37
NC_000013.9:g.109651872T>C	NCBI36
NG_011544.2:g.110626A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.1000-2A>G MANE Select	NP_001836.3:n.1000-2A>G
ENST00000375820.10:c.1000-2A>G MANE Select	ENSP00000364979.4:n.1000-2A>G
NM_001303110.1:c.1000-2A>G	NP_001290039.1:n.1000-2A>G
NM_001303110.2:c.1000-2A>G	NP_001290039.1:n.1000-2A>G
NM_001845.5:c.1000-2A>G	NP_001836.3:n.1000-2A>G
ENST00000375820.8:c.1000-2A>G	ENSP00000364979.4:n.1000-2A>G
ENST00000543140.5:c.1000-2A>G	ENSP00000443348.1:n.1000-2A>G
ENST00000543140.6:c.1000-2A>G	ENSP00000443348.1:n.1000-2A>G
ENST00000647797.1:c.879-2A>G
ENST00000649738.1:n.1130-2A>G
XM_011521048.1:c.808-2A>G	XP_011519350.1:n.808-2A>G
XM_011521048.2:c.808-2A>G	XP_011519350.1:n.808-2A>G