Canonical Allele Identifier: CA388665438

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110175229G>A , CM000675.2:g.110175229G>A	GRCh38
NC_000013.10:g.110827576G>A , CM000675.1:g.110827576G>A	GRCh37
NC_000013.9:g.109625577G>A	NCBI36
NG_011544.2:g.136921C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.3187C>T MANE Select	NP_001836.3:p.Arg1063Ter
ENST00000375820.10:c.3187C>T MANE Select	ENSP00000364979.4:p.Arg1063Ter
NM_001845.5:c.3187C>T	NP_001836.3:p.Arg1063Ter
ENST00000375820.8:c.3187C>T	ENSP00000364979.4:p.Arg1063Ter
XM_011521048.1:c.2995C>T	XP_011519350.1:p.Arg999Ter
XM_011521048.2:c.2995C>T	XP_011519350.1:p.Arg999Ter