Canonical Allele Identifier: CA7047073
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 311032
ClinVar RCV Id: RCV000281191 RCV000338541 RCV002056343 RCV002248549 RCV002504074 RCV004537758
dbSNP Id: rs535848796
ExAC: 13:110818628 G / A
gnomAD v2: 13-110818628-G-A
gnomAD v3: 13-110166281-G-A
gnomAD v4: 13-110166281-G-A
MyVariant Identifiers: chr13:g.110818628G>A (hg19) chr13:g.110166281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166281G>A , CM000675.2:g.110166281G>A GRCh38
NC_000013.10:g.110818628G>A , CM000675.1:g.110818628G>A GRCh37
NC_000013.9:g.109616629G>A NCBI36
NG_011544.2:g.145869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3972C>T MANE Select ENSP00000364979.4:p.Leu1324=
ENST00000650424.1:c.128C>T
ENST00000375820.8:c.3972C>T ENSP00000364979.4:p.Leu1324=
NM_001845.5:c.3972C>T NP_001836.3:p.Leu1324=
XM_011521048.1:c.3780C>T XP_011519350.1:p.Leu1260=
XM_011521048.2:c.3780C>T XP_011519350.1:p.Leu1260=
NM_001845.6:c.3972C>T MANE Select NP_001836.3:p.Leu1324=
Search 100 bp 5'
Search 100 bp 3'