Canonical Allele Identifier: CA259927
Gene: FA2H HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.74719071G>A
GRCh37 chr16:g.74752969G>A
Revel Score:
ENST00000219368 (MANE Select) 0.845
ENST00000544337 0.845
gnomAD v2:
16:74752969 G / A
gnomAD v3:
16:74719071 G / A
gnomAD v4:
chr16-74719071-G-A
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74719071G>A , CM000678.2:g.74719071G>A GRCh38
NC_000016.9:g.74752969G>A , CM000678.1:g.74752969G>A GRCh37
NC_000016.8:g.73310470G>A NCBI36
NG_017070.1:g.60761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.703C>T MANE Select ENSP00000219368.3:p.Arg235Cys
ENST00000219368.7:c.703C>T ENSP00000219368.3:p.Arg235Cys
ENST00000567683.5:c.453C>T ENSP00000455126.1:p.Thr151=
ENST00000569949.1:c.505C>T ENSP00000464576.1:p.Arg169Cys
NM_024306.4:c.703C>T NP_077282.3:p.Arg235Cys
XM_011523317.1:c.703C>T XP_011521619.1:p.Arg235Cys
XM_011523318.1:c.703C>T XP_011521620.1:p.Arg235Cys
XM_011523319.1:c.463C>T XP_011521621.1:p.Arg155Cys
XM_011523317.3:c.703C>T XP_011521619.1:p.Arg235Cys
XM_011523319.2:c.463C>T XP_011521621.1:p.Arg155Cys
NM_024306.5:c.703C>T MANE Select NP_077282.3:p.Arg235Cys
Search 100 bp 5'
Search 100 bp 3'