Canonical Allele Identifier: CA816330390

Gene: OFCC1

Linked Data

• dbSNP Id: rs1361850499
• gnomAD v3: 6-10175953-C-T
• gnomAD v4: 6-10175953-C-T
• MyVariant Identifiers: chr6:g.10176186C>T (hg19) ; chr6:g.10175953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175953C>T , CM000668.2:g.10175953C>T	GRCh38
NC_000006.11:g.10176186C>T , CM000668.1:g.10176186C>T	GRCh37
NC_000006.10:g.10284172C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16454G>A
ENST00000481704.1:c.-101-16454G>A	ENSP00000418286.1:n.-101-16454G>A
XM_017011612.1:c.-101-16454G>A	XP_016867101.1:n.-101-16454G>A
NR_170155.1:n.232-16454G>A