Canonical Allele Identifier: CA7047256
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590263
ClinVar RCV Id: RCV002107374 RCV002507982
dbSNP Id: rs182418518
ExAC: 13:110826260 C / T
gnomAD v2: 13-110826260-C-T
gnomAD v3: 13-110173913-C-T
gnomAD v4: 13-110173913-C-T
MyVariant Identifiers: chr13:g.110826260C>T (hg19) chr13:g.110173913C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173913C>T , CM000675.2:g.110173913C>T GRCh38
NC_000013.10:g.110826260C>T , CM000675.1:g.110826260C>T GRCh37
NC_000013.9:g.109624261C>T NCBI36
NG_011544.2:g.138237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3492G>A MANE Select ENSP00000364979.4:p.Glu1164=
ENST00000375820.8:c.3492G>A ENSP00000364979.4:p.Glu1164=
NM_001845.5:c.3492G>A NP_001836.3:p.Glu1164=
XM_011521048.1:c.3300G>A XP_011519350.1:p.Glu1100=
XM_011521048.2:c.3300G>A XP_011519350.1:p.Glu1100=
NM_001845.6:c.3492G>A MANE Select NP_001836.3:p.Glu1164=
Search 100 bp 5'
Search 100 bp 3'