Canonical Allele Identifier: CA388661775
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169676G>A , CM000675.2:g.110169676G>A GRCh38
NC_000013.10:g.110822023G>A , CM000675.1:g.110822023G>A GRCh37
NC_000013.9:g.109620024G>A NCBI36
NG_011544.2:g.142474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3829C>T MANE Select ENSP00000364979.4:p.Pro1277Ser
ENST00000375820.8:c.3829C>T ENSP00000364979.4:p.Pro1277Ser
NM_001845.5:c.3829C>T NP_001836.3:p.Pro1277Ser
XM_011521048.1:c.3637C>T XP_011519350.1:p.Pro1213Ser
XM_011521048.2:c.3637C>T XP_011519350.1:p.Pro1213Ser
NM_001845.6:c.3829C>T MANE Select NP_001836.3:p.Pro1277Ser