Canonical Allele Identifier: CA203377

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 198348
• ClinVar RCV Id: RCV000179644 ; RCV000315339 ; RCV000577951 ; RCV000872220
• dbSNP Id: rs61729366
• ExAC: 4:79432453 G / A
• gnomAD v2: 4-79432453-G-A
• gnomAD v3: 4-78511299-G-A
• gnomAD v4: 4-78511299-G-A
• MyVariant Identifiers: chr4:g.79432453G>A (hg19) ; chr4:g.78511299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78511299G>A , CM000666.2:g.78511299G>A	GRCh38
NC_000004.11:g.79432453G>A , CM000666.1:g.79432453G>A	GRCh37
NC_000004.10:g.79651477G>A	NCBI36
NG_015812.1:g.458730G>A
NG_015812.2:g.458730G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682513.1:c.9806G>A	ENSP00000508201.1:p.Arg3269Gln
ENST00000512123.4:c.9806G>A MANE Select	ENSP00000422834.2:p.Arg3269Gln
ENST00000512123.3:c.9806G>A	ENSP00000422834.2:p.Arg3269Gln
NM_025074.6:c.9806G>A	NP_079350.5:p.Arg3269Gln
XM_006714314.1:c.9800G>A	XP_006714377.1:p.Arg3267Gln
XM_006714316.1:c.9578G>A	XP_006714379.1:p.Arg3193Gln
XM_011532270.1:c.7505G>A	XP_011530572.1:p.Arg2502Gln
XM_011532271.1:c.4694G>A	XP_011530573.1:p.Arg1565Gln
XM_006714316.3:c.9578G>A	XP_006714379.1:p.Arg3193Gln
NM_025074.7:c.9806G>A MANE Select	NP_079350.5:p.Arg3269Gln