Canonical Allele Identifier: CA388661692
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821983C>A (hg19) chr13:g.110169636C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169636C>A , CM000675.2:g.110169636C>A GRCh38
NC_000013.10:g.110821983C>A , CM000675.1:g.110821983C>A GRCh37
NC_000013.9:g.109619984C>A NCBI36
NG_011544.2:g.142514G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3869G>T MANE Select ENSP00000364979.4:p.Gly1290Val
ENST00000650424.1:c.25G>T
ENST00000375820.8:c.3869G>T ENSP00000364979.4:p.Gly1290Val
NM_001845.5:c.3869G>T NP_001836.3:p.Gly1290Val
XM_011521048.1:c.3677G>T XP_011519350.1:p.Gly1226Val
XM_011521048.2:c.3677G>T XP_011519350.1:p.Gly1226Val
NM_001845.6:c.3869G>T MANE Select NP_001836.3:p.Gly1290Val
Search 100 bp 5'
Search 100 bp 3'