Canonical Allele Identifier: CA723874621

Gene: FA2H

Linked Data

• dbSNP Id: rs1203880171
• gnomAD v3: 16-74774283-G-A
• gnomAD v4: 16-74774283-G-A
• MyVariant Identifiers: chr16:g.74808181G>A (hg19) ; chr16:g.74774283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774283G>A , CM000678.2:g.74774283G>A	GRCh38
NC_000016.9:g.74808181G>A , CM000678.1:g.74808181G>A	GRCh37
NC_000016.8:g.73365682G>A	NCBI36
NG_017070.1:g.5549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+203C>T MANE Select	ENSP00000219368.3:n.270+203C>T
ENST00000219368.7:c.270+203C>T	ENSP00000219368.3:n.270+203C>T
ENST00000567683.5:c.270+203C>T	ENSP00000455126.1:n.270+203C>T
NM_024306.4:c.270+203C>T	NP_077282.3:n.270+203C>T
XM_011523317.1:c.270+203C>T	XP_011521619.1:n.270+203C>T
XM_011523318.1:c.270+203C>T	XP_011521620.1:n.270+203C>T
XM_011523317.3:c.270+203C>T	XP_011521619.1:n.270+203C>T
NM_024306.5:c.270+203C>T MANE Select	NP_077282.3:n.270+203C>T