Canonical Allele Identifier: CA2978374

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349767
• ClinVar RCV Id: RCV000394370 ; RCV003766013
• dbSNP Id: rs373332959
• ExAC: 4:79402943 T / C
• gnomAD v2: 4-79402943-T-C
• gnomAD v3: 4-78481789-T-C
• gnomAD v4: 4-78481789-T-C
• MyVariant Identifiers: chr4:g.79402943T>C (hg19) ; chr4:g.78481789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78481789T>C , CM000666.2:g.78481789T>C	GRCh38
NC_000004.11:g.79402943T>C , CM000666.1:g.79402943T>C	GRCh37
NC_000004.10:g.79621967T>C	NCBI36
NG_015812.1:g.429220T>C
NG_015812.2:g.429220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.8444-15T>C	ENSP00000508201.1:n.8444-15T>C
ENST00000512123.4:c.8444-15T>C MANE Select	ENSP00000422834.2:n.8444-15T>C
ENST00000512123.3:c.8444-15T>C	ENSP00000422834.2:n.8444-15T>C
NM_025074.6:c.8444-15T>C	NP_079350.5:n.8444-15T>C
XM_006714314.1:c.8438-15T>C	XP_006714377.1:n.8438-15T>C
XM_006714316.1:c.8216-15T>C	XP_006714379.1:n.8216-15T>C
XM_011532270.1:c.6143-15T>C	XP_011530572.1:n.6143-15T>C
XM_011532271.1:c.3332-15T>C	XP_011530573.1:n.3332-15T>C
XM_006714316.3:c.8216-15T>C	XP_006714379.1:n.8216-15T>C
NM_025074.7:c.8444-15T>C MANE Select	NP_079350.5:n.8444-15T>C