Canonical Allele Identifier: CA2273808
Gene: COL6A4P1 HGNC NCBI

Linked Data

dbSNP Id: rs7639618
gnomAD v2: 3-15216429-C-T
gnomAD v3: 3-15174922-C-T
gnomAD v4: 3-15174922-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15174922C>T , CM000665.2:g.15174922C>T GRCh38
NC_000003.11:g.15216429C>T , CM000665.1:g.15216429C>T GRCh37
NC_000003.10:g.15191433C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000446690.2:n.1282G>A
ENST00000487147.5:n.1106G>A
ENST00000491915.1:n.182G>A
NR_027927.1:n.1282G>A