Canonical Allele Identifier: CA2979199

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349814
• ClinVar RCV Id: RCV000394486 ; RCV003766019
• dbSNP Id: rs368551584
• ExAC: 4:79460440 A / C
• gnomAD v2: 4-79460440-A-C
• gnomAD v3: 4-78539286-A-C
• gnomAD v4: 4-78539286-A-C
• MyVariant Identifiers: chr4:g.79460440A>C (hg19) ; chr4:g.78539286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78539286A>C , CM000666.2:g.78539286A>C	GRCh38
NC_000004.11:g.79460440A>C , CM000666.1:g.79460440A>C	GRCh37
NC_000004.10:g.79679464A>C	NCBI36
NG_015812.1:g.486717A>C
NG_015812.2:g.486717A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.11299-8A>C MANE Select	ENSP00000422834.2:n.11299-8A>C
ENST00000512123.3:c.11299-8A>C	ENSP00000422834.2:n.11299-8A>C
NM_025074.6:c.11299-8A>C	NP_079350.5:n.11299-8A>C
XM_006714314.1:c.11293-8A>C	XP_006714377.1:n.11293-8A>C
XM_006714316.1:c.11071-8A>C	XP_006714379.1:n.11071-8A>C
XM_011532270.1:c.8998-8A>C	XP_011530572.1:n.8998-8A>C
XM_011532271.1:c.6187-8A>C	XP_011530573.1:n.6187-8A>C
XM_006714316.3:c.11071-8A>C	XP_006714379.1:n.11071-8A>C
NM_025074.7:c.11299-8A>C MANE Select	NP_079350.5:n.11299-8A>C