Canonical Allele Identifier: CA484788853
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1982750
ClinVar RCV Id: RCV002785582
gnomAD v4: 13-110170551-C-A
MyVariant Identifiers: chr13:g.110822898C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170551C>A , CM000675.2:g.110170551C>A GRCh38
NC_000013.10:g.110822898C>A , CM000675.1:g.110822898C>A GRCh37
NC_000013.9:g.109620899C>A NCBI36
NG_011544.2:g.141599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3738G>T MANE Select ENSP00000364979.4:p.Leu1246=
ENST00000375820.8:c.3738G>T ENSP00000364979.4:p.Leu1246=
NM_001845.5:c.3738G>T NP_001836.3:p.Leu1246=
XM_011521048.1:c.3546G>T XP_011519350.1:p.Leu1182=
XM_011521048.2:c.3546G>T XP_011519350.1:p.Leu1182=
NM_001845.6:c.3738G>T MANE Select NP_001836.3:p.Leu1246=
Search 100 bp 5'
Search 100 bp 3'