Canonical Allele Identifier: CA134745201

Gene: OFCC1

Linked Data

• dbSNP Id: rs138758675
• gnomAD v3: 6-9993469-C-T
• gnomAD v4: 6-9993469-C-T
• MyVariant Identifiers: chr6:g.9993702C>T (hg19) ; chr6:g.9993469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.9993469C>T , CM000668.2:g.9993469C>T	GRCh38
NC_000006.11:g.9993702C>T , CM000668.1:g.9993702C>T	GRCh37
NC_000006.10:g.10101688C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000472329.5:n.117-54120G>A
ENST00000481704.1:c.6-54120G>A	ENSP00000418286.1:n.6-54120G>A
ENST00000485268.1:c.-290-46007G>A	ENSP00000417933.1:n.-290-46007G>A
XM_011515036.1:c.123-54120G>A	XP_011513338.1:n.123-54120G>A
XM_017011612.1:c.6-54120G>A	XP_016867101.1:n.6-54120G>A
NR_170155.1:n.338-54120G>A