Canonical Allele Identifier: CA375693320

Gene: SURF1

Linked Data

• dbSNP Id: rs1836422411
• gnomAD v3: 9-133351935-A-T
• gnomAD v4: 9-133351935-A-T
• MyVariant Identifiers: chr9:g.133351935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133351935A>T , CM000671.2:g.133351935A>T	GRCh38
NC_000009.10:g.135208611A>T	NCBI36
NG_008477.1:g.9572T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.881T>A MANE Select	ENSP00000361042.3:p.Leu294Gln
ENST00000371974.7:c.881T>A	ENSP00000361042.3:p.Leu294Gln
ENST00000437995.1:n.791T>A
ENST00000495952.5:n.871T>A
ENST00000615505.4:c.554T>A	ENSP00000482067.1:p.Leu185Gln
NM_001280787.1:c.554T>A	NP_001267716.1:p.Leu185Gln
NM_003172.3:c.881T>A	NP_003163.1:p.Leu294Gln
XM_011518942.1:c.554T>A	XP_011517244.1:p.Leu185Gln
NM_003172.4:c.881T>A MANE Select	NP_003163.1:p.Leu294Gln