Canonical Allele Identifier: CA388661796
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822033C>A (hg19) chr13:g.110169686C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169686C>A , CM000675.2:g.110169686C>A GRCh38
NC_000013.10:g.110822033C>A , CM000675.1:g.110822033C>A GRCh37
NC_000013.9:g.109620034C>A NCBI36
NG_011544.2:g.142464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3819G>T MANE Select ENSP00000364979.4:p.Trp1273Cys
ENST00000375820.8:c.3819G>T ENSP00000364979.4:p.Trp1273Cys
NM_001845.5:c.3819G>T NP_001836.3:p.Trp1273Cys
XM_011521048.1:c.3627G>T XP_011519350.1:p.Trp1209Cys
XM_011521048.2:c.3627G>T XP_011519350.1:p.Trp1209Cys
NM_001845.6:c.3819G>T MANE Select NP_001836.3:p.Trp1273Cys
Search 100 bp 5'
Search 100 bp 3'