Canonical Allele Identifier: CA283756863
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs990184001
gnomAD v3: 16-74713430-G-C
gnomAD v4: 16-74713430-G-C
MyVariant Identifiers: chr16:g.74747328G>C (hg19) chr16:g.74713430G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713430G>C , CM000678.2:g.74713430G>C GRCh38
NC_000016.9:g.74747328G>C , CM000678.1:g.74747328G>C GRCh37
NC_000016.8:g.73304829G>C NCBI36
NG_017070.1:g.66402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*760C>G MANE Select ENSP00000219368.3:n.*760C>G
ENST00000219368.7:c.*760C>G ENSP00000219368.3:n.*760C>G
ENST00000562145.1:n.1600C>G
NM_024306.4:c.*760C>G NP_077282.3:n.*760C>G
XM_011523319.1:c.*760C>G XP_011521621.1:n.*760C>G
XM_011523319.2:c.*760C>G XP_011521621.1:n.*760C>G
NM_024306.5:c.*760C>G MANE Select NP_077282.3:n.*760C>G
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