Canonical Allele Identifier: CA7048548

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212437G>A , CM000675.2:g.110212437G>A	GRCh38
NC_000013.10:g.110864784G>A , CM000675.1:g.110864784G>A	GRCh37
NC_000013.9:g.109662785G>A	NCBI36
NG_011544.2:g.99713C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.367C>T MANE Select	NP_001836.3:p.Pro123Ser
ENST00000375820.10:c.367C>T MANE Select	ENSP00000364979.4:p.Pro123Ser
NM_001303110.1:c.367C>T	NP_001290039.1:p.Pro123Ser
NM_001303110.2:c.367C>T	NP_001290039.1:p.Pro123Ser
NM_001845.5:c.367C>T	NP_001836.3:p.Pro123Ser
ENST00000375820.8:c.367C>T	ENSP00000364979.4:p.Pro123Ser
ENST00000543140.5:c.367C>T	ENSP00000443348.1:p.Pro123Ser
ENST00000543140.6:c.367C>T	ENSP00000443348.1:p.Pro123Ser
ENST00000615732.1:c.175C>T	ENSP00000478222.1:p.Pro59Ser
ENST00000615732.2:c.175C>T	ENSP00000478222.2:p.Pro59Ser
ENST00000647797.1:c.246C>T
ENST00000648170.1:n.246C>T
ENST00000648966.1:c.246C>T
ENST00000649484.1:c.246C>T
ENST00000649738.1:n.497C>T
ENST00000650138.1:n.56C>T
XM_011521048.1:c.175C>T	XP_011519350.1:p.Pro59Ser
XM_011521048.2:c.175C>T	XP_011519350.1:p.Pro59Ser