Canonical Allele Identifier: CA2978147

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 235484
• ClinVar RCV Id: RCV000223984 ; RCV000778741 ; RCV001328302
• dbSNP Id: rs745597204
• ExAC: 4:79394620 T / A
• gnomAD v2: 4-79394620-T-A
• gnomAD v3: 4-78473466-T-A
• gnomAD v4: 4-78473466-T-A
• MyVariant Identifiers: chr4:g.79394620T>A (hg19) ; chr4:g.78473466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78473466T>A , CM000666.2:g.78473466T>A	GRCh38
NC_000004.11:g.79394620T>A , CM000666.1:g.79394620T>A	GRCh37
NC_000004.10:g.79613644T>A	NCBI36
NG_015812.1:g.420897T>A
NG_015812.2:g.420897T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.7551T>A	ENSP00000508201.1:p.Tyr2517Ter
ENST00000512123.4:c.7551T>A MANE Select	ENSP00000422834.2:p.Tyr2517Ter
ENST00000512123.3:c.7551T>A	ENSP00000422834.2:p.Tyr2517Ter
NM_025074.6:c.7551T>A	NP_079350.5:p.Tyr2517Ter
XM_006714314.1:c.7545T>A	XP_006714377.1:p.Tyr2515Ter
XM_006714316.1:c.7323T>A	XP_006714379.1:p.Tyr2441Ter
XM_011532270.1:c.5250T>A	XP_011530572.1:p.Tyr1750Ter
XM_011532271.1:c.2439T>A	XP_011530573.1:p.Tyr813Ter
XM_006714316.3:c.7323T>A	XP_006714379.1:p.Tyr2441Ter
NM_025074.7:c.7551T>A MANE Select	NP_079350.5:p.Tyr2517Ter