Canonical Allele Identifier: CA440225113

Gene: FRAS1

Linked Data

• dbSNP Id: rs1233100437
• gnomAD v2: 4-79432520-G-A
• gnomAD v3: 4-78511366-G-A
• gnomAD v4: 4-78511366-G-A
• MyVariant Identifiers: chr4:g.79432520G>A (hg19) ; chr4:g.78511366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78511366G>A , CM000666.2:g.78511366G>A	GRCh38
NC_000004.11:g.79432520G>A , CM000666.1:g.79432520G>A	GRCh37
NC_000004.10:g.79651544G>A	NCBI36
NG_015812.1:g.458797G>A
NG_015812.2:g.458797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682513.1:c.9873G>A	ENSP00000508201.1:p.Arg3291=
ENST00000512123.4:c.9873G>A MANE Select	ENSP00000422834.2:p.Arg3291=
ENST00000512123.3:c.9873G>A	ENSP00000422834.2:p.Arg3291=
NM_025074.6:c.9873G>A	NP_079350.5:p.Arg3291=
XM_006714314.1:c.9867G>A	XP_006714377.1:p.Arg3289=
XM_006714316.1:c.9645G>A	XP_006714379.1:p.Arg3215=
XM_011532270.1:c.7572G>A	XP_011530572.1:p.Arg2524=
XM_011532271.1:c.4761G>A	XP_011530573.1:p.Arg1587=
XM_006714316.3:c.9645G>A	XP_006714379.1:p.Arg3215=
NM_025074.7:c.9873G>A MANE Select	NP_079350.5:p.Arg3291=