Canonical Allele Identifier: CA2976109

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349672
• ClinVar RCV Id: RCV000302837 ; RCV001850856 ; RCV003932430
• dbSNP Id: rs186811333
• ExAC: 4:79188491 G / A
• gnomAD v2: 4-79188491-G-A
• gnomAD v3: 4-78267337-G-A
• gnomAD v4: 4-78267337-G-A
• COSMIC: COSM123232 ; COSM123233
• MyVariant Identifiers: chr4:g.79188491G>A (hg19) ; chr4:g.78267337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78267337G>A , CM000666.2:g.78267337G>A	GRCh38
NC_000004.11:g.79188491G>A , CM000666.1:g.79188491G>A	GRCh37
NC_000004.10:g.79407515G>A	NCBI36
NG_015812.1:g.214768G>A
NG_015812.2:g.214768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325942.11:c.886G>A	ENSP00000326330.6:p.Glu296Lys
ENST00000502446.6:c.886G>A	ENSP00000423645.2:p.Glu296Lys
ENST00000508900.2:c.886G>A	ENSP00000423809.2:p.Glu296Lys
ENST00000682513.1:c.886G>A	ENSP00000508201.1:p.Glu296Lys
ENST00000682583.1:n.99G>A
ENST00000683711.1:n.1206G>A
ENST00000684159.1:c.886G>A	ENSP00000506875.1:p.Glu296Lys
ENST00000512123.4:c.886G>A MANE Select	ENSP00000422834.2:p.Glu296Lys
ENST00000264899.10:c.844+42G>A	ENSP00000264899.7:n.844+42G>A
ENST00000325942.10:c.886G>A	ENSP00000326330.6:p.Glu296Lys
ENST00000502446.5:c.672G>A
ENST00000508900.1:c.413G>A
ENST00000512123.3:c.886G>A	ENSP00000422834.2:p.Glu296Lys
NM_001166133.1:c.886G>A	NP_001159605.1:p.Glu296Lys
NM_025074.6:c.886G>A	NP_079350.5:p.Glu296Lys
XM_006714314.1:c.886G>A	XP_006714377.1:p.Glu296Lys
XM_006714316.1:c.886G>A	XP_006714379.1:p.Glu296Lys
XM_006714316.3:c.886G>A	XP_006714379.1:p.Glu296Lys
NM_025074.7:c.886G>A MANE Select	NP_079350.5:p.Glu296Lys
NM_001166133.2:c.886G>A	NP_001159605.1:p.Glu296Lys