Canonical Allele Identifier: CA388668554
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831632A>T (hg19) chr13:g.110179285A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179285A>T , CM000675.2:g.110179285A>T GRCh38
NC_000013.10:g.110831632A>T , CM000675.1:g.110831632A>T GRCh37
NC_000013.9:g.109629633A>T NCBI36
NG_011544.2:g.132865T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2330T>A MANE Select ENSP00000364979.4:p.Leu777His
ENST00000649738.1:n.2460T>A
ENST00000375820.8:c.2330T>A ENSP00000364979.4:p.Leu777His
NM_001845.5:c.2330T>A NP_001836.3:p.Leu777His
XM_011521048.1:c.2138T>A XP_011519350.1:p.Leu713His
XM_011521048.2:c.2138T>A XP_011519350.1:p.Leu713His
NM_001845.6:c.2330T>A MANE Select NP_001836.3:p.Leu777His
Search 100 bp 5'
Search 100 bp 3'