Canonical Allele Identifier: CA484788697
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821982G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169635G>A , CM000675.2:g.110169635G>A GRCh38
NC_000013.10:g.110821982G>A , CM000675.1:g.110821982G>A GRCh37
NC_000013.9:g.109619983G>A NCBI36
NG_011544.2:g.142515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3870C>T MANE Select ENSP00000364979.4:p.Gly1290=
ENST00000650424.1:c.26C>T
ENST00000375820.8:c.3870C>T ENSP00000364979.4:p.Gly1290=
NM_001845.5:c.3870C>T NP_001836.3:p.Gly1290=
XM_011521048.1:c.3678C>T XP_011519350.1:p.Gly1226=
XM_011521048.2:c.3678C>T XP_011519350.1:p.Gly1226=
NM_001845.6:c.3870C>T MANE Select NP_001836.3:p.Gly1290=