Canonical Allele Identifier: CA612866194
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512887
ClinVar RCV Id: RCV003767629
dbSNP Id: rs1555303159
gnomAD v2: 13-110830281-G-GT
gnomAD v4: 13-110177934-G-GT
MyVariant Identifiers: chr13:g.110830282dup (hg19) chr13:g.110830281_110830282insT (hg19) chr13:g.110177935dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110177935dup , CM000675.2:g.110177935dup GRCh38
NC_000013.10:g.110830282dup , CM000675.1:g.110830282dup GRCh37
NC_000013.9:g.109628283dup NCBI36
NG_011544.2:g.134215dup

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.2627-4dup MANE Select ENSP00000364979.4:n.2627-4dup
ENST00000375820.8:c.2627-4dup ENSP00000364979.4:n.2627-4dup
NM_001845.5:c.2627-4dup NP_001836.3:n.2627-4dup
XM_011521048.1:c.2435-4dup XP_011519350.1:n.2435-4dup
XM_011521048.2:c.2435-4dup XP_011519350.1:n.2435-4dup
NM_001845.6:c.2627-4dup MANE Select NP_001836.3:n.2627-4dup
Search 100 bp 5'
Search 100 bp 3'