Canonical Allele Identifier: CA388664143
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173921C>A , CM000675.2:g.110173921C>A GRCh38
NC_000013.10:g.110826268C>A , CM000675.1:g.110826268C>A GRCh37
NC_000013.9:g.109624269C>A NCBI36
NG_011544.2:g.138229G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3484G>T MANE Select ENSP00000364979.4:p.Ala1162Ser
ENST00000375820.8:c.3484G>T ENSP00000364979.4:p.Ala1162Ser
NM_001845.5:c.3484G>T NP_001836.3:p.Ala1162Ser
XM_011521048.1:c.3292G>T XP_011519350.1:p.Ala1098Ser
XM_011521048.2:c.3292G>T XP_011519350.1:p.Ala1098Ser
NM_001845.6:c.3484G>T MANE Select NP_001836.3:p.Ala1162Ser