Canonical Allele Identifier: CA256253714
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs867099873
MyVariant Identifiers: chr13:g.110826842G>T (hg19) chr13:g.110174495G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174495G>T , CM000675.2:g.110174495G>T GRCh38
NC_000013.10:g.110826842G>T , CM000675.1:g.110826842G>T GRCh37
NC_000013.9:g.109624843G>T NCBI36
NG_011544.2:g.137655C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3357C>A MANE Select ENSP00000364979.4:p.Asp1119Glu
ENST00000375820.8:c.3357C>A ENSP00000364979.4:p.Asp1119Glu
NM_001845.5:c.3357C>A NP_001836.3:p.Asp1119Glu
XM_011521048.1:c.3165C>A XP_011519350.1:p.Asp1055Glu
XM_011521048.2:c.3165C>A XP_011519350.1:p.Asp1055Glu
NM_001845.6:c.3357C>A MANE Select NP_001836.3:p.Asp1119Glu
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