Canonical Allele Identifier: CA2573144047

Gene: SURF1

Linked Data

• ClinVar Variation Id: 1665846
• ClinVar RCV Id: RCV002203300
• dbSNP Id: rs2119081052
• gnomAD v4: 9-133352519-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352519G>A , CM000671.2:g.133352519G>A	GRCh38
NC_000009.10:g.135209195G>A	NCBI36
NG_008477.1:g.8988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.678C>T MANE Select	ENSP00000361042.3:p.His226=
ENST00000371974.7:c.678C>T	ENSP00000361042.3:p.His226=
ENST00000437995.1:n.588C>T
ENST00000495952.5:n.668C>T
ENST00000615505.4:c.351C>T	ENSP00000482067.1:p.His117=
NM_001280787.1:c.351C>T	NP_001267716.1:p.His117=
NM_003172.3:c.678C>T	NP_003163.1:p.His226=
XM_011518942.1:c.351C>T	XP_011517244.1:p.His117=
NM_003172.4:c.678C>T MANE Select	NP_003163.1:p.His226=