Canonical Allele Identifier: CA723874723
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1480710539
gnomAD v3: 16-74774456-T-G
gnomAD v4: 16-74774456-T-G
MyVariant Identifiers: chr16:g.74808354T>G (hg19) chr16:g.74774456T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774456T>G , CM000678.2:g.74774456T>G GRCh38
NC_000016.9:g.74808354T>G , CM000678.1:g.74808354T>G GRCh37
NC_000016.8:g.73365855T>G NCBI36
NG_017070.1:g.5376A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.270+30A>C MANE Select ENSP00000219368.3:n.270+30A>C
ENST00000219368.7:c.270+30A>C ENSP00000219368.3:n.270+30A>C
ENST00000567683.5:c.270+30A>C ENSP00000455126.1:n.270+30A>C
NM_024306.4:c.270+30A>C NP_077282.3:n.270+30A>C
XM_011523317.1:c.270+30A>C XP_011521619.1:n.270+30A>C
XM_011523318.1:c.270+30A>C XP_011521620.1:n.270+30A>C
XM_011523317.3:c.270+30A>C XP_011521619.1:n.270+30A>C
NM_024306.5:c.270+30A>C MANE Select NP_077282.3:n.270+30A>C
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