Canonical Allele Identifier: CA283756787
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs529743145
gnomAD v3: 16-74713305-C-G
gnomAD v4: 16-74713305-C-G
MyVariant Identifiers: chr16:g.74747203C>G (hg19) chr16:g.74713305C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713305C>G , CM000678.2:g.74713305C>G GRCh38
NC_000016.9:g.74747203C>G , CM000678.1:g.74747203C>G GRCh37
NC_000016.8:g.73304704C>G NCBI36
NG_017070.1:g.66527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*885G>C MANE Select ENSP00000219368.3:n.*885G>C
ENST00000219368.7:c.*885G>C ENSP00000219368.3:n.*885G>C
ENST00000562145.1:n.1725G>C
NM_024306.4:c.*885G>C NP_077282.3:n.*885G>C
XM_011523319.1:c.*885G>C XP_011521621.1:n.*885G>C
XM_011523319.2:c.*885G>C XP_011521621.1:n.*885G>C
NM_024306.5:c.*885G>C MANE Select NP_077282.3:n.*885G>C
Search 100 bp 5'
Search 100 bp 3'