Canonical Allele Identifier: CA16135876
Gene: COL6A4P1 HGNC NCBI

Linked Data

dbSNP Id: rs9864422
gnomAD v2: 3-15227252-C-T
gnomAD v3: 3-15185745-C-T
gnomAD v4: 3-15185745-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15185745C>T , CM000665.2:g.15185745C>T GRCh38
NC_000003.11:g.15227252C>T , CM000665.1:g.15227252C>T GRCh37
NC_000003.10:g.15202256C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000446690.2:n.250-7558G>A
NR_027927.1:n.250-7558G>A