Canonical Allele Identifier: CA607931674

Gene: CFAP251

Linked Data

• dbSNP Id: rs1255415741
• gnomAD v2: 12-122365639-T-C
• gnomAD v3: 12-121927733-T-C
• gnomAD v4: 12-121927733-T-C
• MyVariant Identifiers: chr12:g.122365639T>C (hg19) ; chr12:g.121927733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121927733T>C , CM000674.2:g.121927733T>C	GRCh38
NC_000012.11:g.122365639T>C , CM000674.1:g.122365639T>C	GRCh37
NC_000012.10:g.120850022T>C	NCBI36
NG_021364.1:g.14177T>C
NG_021364.2:g.14177T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000288912.9:c.747+3743T>C MANE Select	ENSP00000288912.4:n.747+3743T>C
ENST00000288912.8:c.747+3743T>C	ENSP00000288912.4:n.747+3743T>C
ENST00000397454.2:c.747+3743T>C	ENSP00000380595.2:n.747+3743T>C
ENST00000540779.1:n.645+3743T>C
NM_001178003.1:c.747+3743T>C	NP_001171474.1:n.747+3743T>C
NM_144668.5:c.747+3743T>C	NP_653269.3:n.747+3743T>C
NM_144668.6:c.747+3743T>C MANE Select	NP_653269.3:n.747+3743T>C
NM_001178003.2:c.747+3743T>C	NP_001171474.1:n.747+3743T>C