Canonical Allele Identifier: CA2979166

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349813
• ClinVar RCV Id: RCV000279659 ; RCV000911142
• dbSNP Id: rs182887871
• ExAC: 4:79458276 G / A
• gnomAD v2: 4-79458276-G-A
• gnomAD v3: 4-78537122-G-A
• gnomAD v4: 4-78537122-G-A
• MyVariant Identifiers: chr4:g.79458276G>A (hg19) ; chr4:g.78537122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78537122G>A , CM000666.2:g.78537122G>A	GRCh38
NC_000004.11:g.79458276G>A , CM000666.1:g.79458276G>A	GRCh37
NC_000004.10:g.79677300G>A	NCBI36
NG_015812.1:g.484553G>A
NG_015812.2:g.484553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.11220G>A MANE Select	ENSP00000422834.2:p.Thr3740=
ENST00000512123.3:c.11220G>A	ENSP00000422834.2:p.Thr3740=
NM_025074.6:c.11220G>A	NP_079350.5:p.Thr3740=
XM_006714314.1:c.11214G>A	XP_006714377.1:p.Thr3738=
XM_006714316.1:c.10992G>A	XP_006714379.1:p.Thr3664=
XM_011532270.1:c.8919G>A	XP_011530572.1:p.Thr2973=
XM_011532271.1:c.6108G>A	XP_011530573.1:p.Thr2036=
XM_006714316.3:c.10992G>A	XP_006714379.1:p.Thr3664=
NM_025074.7:c.11220G>A MANE Select	NP_079350.5:p.Thr3740=