Canonical Allele Identifier: CA7047642
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433087
ClinVar RCV Id: RCV001944246 RCV002484645
dbSNP Id: rs755499333
ExAC: 13:110831648 T / A
gnomAD v2: 13-110831648-T-A
gnomAD v3: 13-110179301-T-A
gnomAD v4: 13-110179301-T-A
MyVariant Identifiers: chr13:g.110831648T>A (hg19) chr13:g.110179301T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179301T>A , CM000675.2:g.110179301T>A GRCh38
NC_000013.10:g.110831648T>A , CM000675.1:g.110831648T>A GRCh37
NC_000013.9:g.109629649T>A NCBI36
NG_011544.2:g.132849A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2314A>T MANE Select ENSP00000364979.4:p.Ile772Phe
ENST00000649738.1:n.2444A>T
ENST00000375820.8:c.2314A>T ENSP00000364979.4:p.Ile772Phe
NM_001845.5:c.2314A>T NP_001836.3:p.Ile772Phe
XM_011521048.1:c.2122A>T XP_011519350.1:p.Ile708Phe
XM_011521048.2:c.2122A>T XP_011519350.1:p.Ile708Phe
NM_001845.6:c.2314A>T MANE Select NP_001836.3:p.Ile772Phe
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