Canonical Allele Identifier: CA388725303

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110208877A>C , CM000675.2:g.110208877A>C	GRCh38
NC_000013.10:g.110861224A>C , CM000675.1:g.110861224A>C	GRCh37
NC_000013.9:g.109659225A>C	NCBI36
NG_011544.2:g.103273T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.665T>G MANE Select	NP_001836.3:p.Leu222Ter
ENST00000375820.10:c.665T>G MANE Select	ENSP00000364979.4:p.Leu222Ter
NM_001303110.1:c.665T>G	NP_001290039.1:p.Leu222Ter
NM_001303110.2:c.665T>G	NP_001290039.1:p.Leu222Ter
NM_001845.5:c.665T>G	NP_001836.3:p.Leu222Ter
ENST00000375820.8:c.665T>G	ENSP00000364979.4:p.Leu222Ter
ENST00000543140.5:c.665T>G	ENSP00000443348.1:p.Leu222Ter
ENST00000543140.6:c.665T>G	ENSP00000443348.1:p.Leu222Ter
ENST00000615732.1:c.473T>G	ENSP00000478222.1:p.Leu158Ter
ENST00000615732.2:c.473T>G	ENSP00000478222.2:p.Leu158Ter
ENST00000647632.1:n.298T>G
ENST00000647797.1:c.544T>G
ENST00000649738.1:n.795T>G
XM_011521048.1:c.473T>G	XP_011519350.1:p.Leu158Ter
XM_011521048.2:c.473T>G	XP_011519350.1:p.Leu158Ter