Canonical Allele Identifier: CA7047649
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1431655
ClinVar RCV Id: RCV001940856
dbSNP Id: rs775341305
ExAC: 13:110831678 C / T
gnomAD v2: 13-110831678-C-T
gnomAD v3: 13-110179331-C-T
gnomAD v4: 13-110179331-C-T
MyVariant Identifiers: chr13:g.110831678C>T (hg19) chr13:g.110179331C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179331C>T , CM000675.2:g.110179331C>T GRCh38
NC_000013.10:g.110831678C>T , CM000675.1:g.110831678C>T GRCh37
NC_000013.9:g.109629679C>T NCBI36
NG_011544.2:g.132819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2284G>A MANE Select ENSP00000364979.4:p.Val762Ile
ENST00000649738.1:n.2414G>A
ENST00000375820.8:c.2284G>A ENSP00000364979.4:p.Val762Ile
NM_001845.5:c.2284G>A NP_001836.3:p.Val762Ile
XM_011521048.1:c.2092G>A XP_011519350.1:p.Val698Ile
XM_011521048.2:c.2092G>A XP_011519350.1:p.Val698Ile
NM_001845.6:c.2284G>A MANE Select NP_001836.3:p.Val762Ile
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