Canonical Allele Identifier: CA2976556

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349693
• ClinVar RCV Id: RCV000318364 ; RCV003698777
• dbSNP Id: rs369605412
• ExAC: 4:79240140 G / C
• gnomAD v2: 4-79240140-G-C
• gnomAD v3: 4-78318986-G-C
• gnomAD v4: 4-78318986-G-C
• MyVariant Identifiers: chr4:g.79240140G>C (hg19) ; chr4:g.78318986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78318986G>C , CM000666.2:g.78318986G>C	GRCh38
NC_000004.11:g.79240140G>C , CM000666.1:g.79240140G>C	GRCh37
NC_000004.10:g.79459164G>C	NCBI36
NG_015812.1:g.266417G>C
NG_015812.2:g.266417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325942.11:c.2137G>C	ENSP00000326330.6:p.Ala713Pro
ENST00000502446.6:c.2137G>C	ENSP00000423645.2:p.Gly713Arg
ENST00000508900.2:c.2137G>C	ENSP00000423809.2:p.Ala713Pro
ENST00000682513.1:c.2137G>C	ENSP00000508201.1:p.Ala713Pro
ENST00000682583.1:n.1363G>C
ENST00000684159.1:c.2137G>C	ENSP00000506875.1:p.Ala713Pro
ENST00000512123.4:c.2137G>C MANE Select	ENSP00000422834.2:p.Ala713Pro
ENST00000264899.10:c.844+51691G>C	ENSP00000264899.7:n.844+51691G>C
ENST00000325942.10:c.2137G>C	ENSP00000326330.6:p.Ala713Pro
ENST00000502446.5:c.1923G>C
ENST00000508900.1:c.1664G>C
ENST00000512123.3:c.2137G>C	ENSP00000422834.2:p.Ala713Pro
NM_001166133.1:c.2137G>C	NP_001159605.1:p.Ala713Pro
NM_025074.6:c.2137G>C	NP_079350.5:p.Ala713Pro
XM_006714314.1:c.2137G>C	XP_006714377.1:p.Ala713Pro
XM_006714316.1:c.2137G>C	XP_006714379.1:p.Ala713Pro
XM_006714316.3:c.2137G>C	XP_006714379.1:p.Ala713Pro
NM_025074.7:c.2137G>C MANE Select	NP_079350.5:p.Ala713Pro
NM_001166133.2:c.2137G>C	NP_001159605.1:p.Ala713Pro