Canonical Allele Identifier: CA2978478

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 498451
• ClinVar RCV Id: RCV000593955 ; RCV002491187
• dbSNP Id: rs191984935
• ExAC: 4:79403698 T / C
• gnomAD v2: 4-79403698-T-C
• gnomAD v3: 4-78482544-T-C
• gnomAD v4: 4-78482544-T-C
• MyVariant Identifiers: chr4:g.79403698T>C (hg19) ; chr4:g.78482544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78482544T>C , CM000666.2:g.78482544T>C	GRCh38
NC_000004.11:g.79403698T>C , CM000666.1:g.79403698T>C	GRCh37
NC_000004.10:g.79622722T>C	NCBI36
NG_015812.1:g.429975T>C
NG_015812.2:g.429975T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.8752+9T>C	ENSP00000508201.1:n.8752+9T>C
ENST00000512123.4:c.8752+9T>C MANE Select	ENSP00000422834.2:n.8752+9T>C
ENST00000512123.3:c.8752+9T>C	ENSP00000422834.2:n.8752+9T>C
NM_025074.6:c.8752+9T>C	NP_079350.5:n.8752+9T>C
XM_006714314.1:c.8746+9T>C	XP_006714377.1:n.8746+9T>C
XM_006714316.1:c.8524+9T>C	XP_006714379.1:n.8524+9T>C
XM_011532270.1:c.6451+9T>C	XP_011530572.1:n.6451+9T>C
XM_011532271.1:c.3640+9T>C	XP_011530573.1:n.3640+9T>C
XM_006714316.3:c.8524+9T>C	XP_006714379.1:n.8524+9T>C
NM_025074.7:c.8752+9T>C MANE Select	NP_079350.5:n.8752+9T>C