Canonical Allele Identifier: CA295165512

Gene: RFNG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82050666G>A , CM000679.2:g.82050666G>A	GRCh38
NC_000017.10:g.80008542G>A , CM000679.1:g.80008542G>A	GRCh37
NC_000017.9:g.77601831G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002917.2:c.415C>T MANE Select	NP_002908.1:p.Arg139Cys
ENST00000310496.9:c.415C>T MANE Select	ENSP00000307971.4:p.Arg139Cys
NM_002917.1:c.415C>T	NP_002908.1:p.Arg139Cys
ENST00000310496.8:c.415C>T	ENSP00000307971.4:p.Arg139Cys
ENST00000429557.7:c.37C>T	ENSP00000402931.3:p.Arg13Cys
ENST00000578356.1:c.37C>T	ENSP00000463623.1:p.Arg13Cys
ENST00000578676.5:n.141C>T
ENST00000580928.1:n.94C>T
ENST00000580953.5:n.211C>T
ENST00000582478.5:n.1009C>T
ENST00000583784.1:n.122C>T
ENST00000584463.1:n.213C>T
ENST00000584515.1:n.235C>T
ENST00000584838.5:n.163C>T
XM_011523587.1:c.37C>T	XP_011521889.1:p.Arg13Cys
XM_011523587.2:c.37C>T	XP_011521889.1:p.Arg13Cys