Canonical Allele Identifier: CA256253644
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs571698354
gnomAD v3: 13-110174388-C-A
gnomAD v4: 13-110174388-C-A
MyVariant Identifiers: chr13:g.110826735C>A (hg19) chr13:g.110174388C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174388C>A , CM000675.2:g.110174388C>A GRCh38
NC_000013.10:g.110826735C>A , CM000675.1:g.110826735C>A GRCh37
NC_000013.9:g.109624736C>A NCBI36
NG_011544.2:g.137762G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+58G>T MANE Select ENSP00000364979.4:n.3406+58G>T
ENST00000375820.8:c.3406+58G>T ENSP00000364979.4:n.3406+58G>T
NM_001845.5:c.3406+58G>T NP_001836.3:n.3406+58G>T
XM_011521048.1:c.3214+58G>T XP_011519350.1:n.3214+58G>T
XM_011521048.2:c.3214+58G>T XP_011519350.1:n.3214+58G>T
NM_001845.6:c.3406+58G>T MANE Select NP_001836.3:n.3406+58G>T
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