Canonical Allele Identifier: CA388668716
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831716C>A (hg19) chr13:g.110179369C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179369C>A , CM000675.2:g.110179369C>A GRCh38
NC_000013.10:g.110831716C>A , CM000675.1:g.110831716C>A GRCh37
NC_000013.9:g.109629717C>A NCBI36
NG_011544.2:g.132781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2246G>T MANE Select ENSP00000364979.4:p.Gly749Val
ENST00000649738.1:n.2376G>T
ENST00000375820.8:c.2246G>T ENSP00000364979.4:p.Gly749Val
NM_001845.5:c.2246G>T NP_001836.3:p.Gly749Val
XM_011521048.1:c.2054G>T XP_011519350.1:p.Gly685Val
XM_011521048.2:c.2054G>T XP_011519350.1:p.Gly685Val
NM_001845.6:c.2246G>T MANE Select NP_001836.3:p.Gly749Val
Search 100 bp 5'
Search 100 bp 3'