Canonical Allele Identifier: CA484788818
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822108T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169761T>C , CM000675.2:g.110169761T>C GRCh38
NC_000013.10:g.110822108T>C , CM000675.1:g.110822108T>C GRCh37
NC_000013.9:g.109620109T>C NCBI36
NG_011544.2:g.142389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3744A>G MANE Select ENSP00000364979.4:p.Gly1248=
ENST00000375820.8:c.3744A>G ENSP00000364979.4:p.Gly1248=
NM_001845.5:c.3744A>G NP_001836.3:p.Gly1248=
XM_011521048.1:c.3552A>G XP_011519350.1:p.Gly1184=
XM_011521048.2:c.3552A>G XP_011519350.1:p.Gly1184=
NM_001845.6:c.3744A>G MANE Select NP_001836.3:p.Gly1248=
Search 100 bp 5'
Search 100 bp 3'