Canonical Allele Identifier: CA10621737

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349748
• ClinVar RCV Id: RCV000327285 ; RCV003698779
• dbSNP Id: rs886059633
• gnomAD v4: 4-78466213-G-A
• MyVariant Identifiers: chr4:g.79387367G>A (hg19) ; chr4:g.78466213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78466213G>A , CM000666.2:g.78466213G>A	GRCh38
NC_000004.11:g.79387367G>A , CM000666.1:g.79387367G>A	GRCh37
NC_000004.10:g.79606391G>A	NCBI36
NG_015812.1:g.413644G>A
NG_015812.2:g.413644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.7035G>A	ENSP00000508201.1:p.Glu2345=
ENST00000512123.4:c.7035G>A MANE Select	ENSP00000422834.2:p.Glu2345=
ENST00000512123.3:c.7035G>A	ENSP00000422834.2:p.Glu2345=
NM_025074.6:c.7035G>A	NP_079350.5:p.Glu2345=
XM_006714314.1:c.7029G>A	XP_006714377.1:p.Glu2343=
XM_006714316.1:c.7029+1630G>A	XP_006714379.1:n.7029+1630G>A
XM_011532270.1:c.4734G>A	XP_011530572.1:p.Glu1578=
XM_011532271.1:c.1923G>A	XP_011530573.1:p.Glu641=
XM_006714316.3:c.7029+1630G>A	XP_006714379.1:n.7029+1630G>A
NM_025074.7:c.7035G>A MANE Select	NP_079350.5:p.Glu2345=