Canonical Allele Identifier: CA357378325

Gene: FRAS1

Linked Data

• dbSNP Id: rs1170286220
• gnomAD v2: 4-79328966-C-T
• gnomAD v4: 4-78407812-C-T
• MyVariant Identifiers: chr4:g.79328966C>T (hg19) ; chr4:g.78407812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78407812C>T , CM000666.2:g.78407812C>T	GRCh38
NC_000004.11:g.79328966C>T , CM000666.1:g.79328966C>T	GRCh37
NC_000004.10:g.79547990C>T	NCBI36
NG_015812.1:g.355243C>T
NG_015812.2:g.355243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325942.11:c.4279C>T	ENSP00000326330.6:p.Pro1427Ser
ENST00000682513.1:c.4279C>T	ENSP00000508201.1:p.Pro1427Ser
ENST00000684159.1:c.4279C>T	ENSP00000506875.1:p.Pro1427Ser
ENST00000512123.4:c.4279C>T MANE Select	ENSP00000422834.2:p.Pro1427Ser
ENST00000264899.10:c.845-36291C>T	ENSP00000264899.7:n.845-36291C>T
ENST00000325942.10:c.4279C>T	ENSP00000326330.6:p.Pro1427Ser
ENST00000512123.3:c.4279C>T	ENSP00000422834.2:p.Pro1427Ser
NM_001166133.1:c.4279C>T	NP_001159605.1:p.Pro1427Ser
NM_025074.6:c.4279C>T	NP_079350.5:p.Pro1427Ser
XM_006714314.1:c.4279C>T	XP_006714377.1:p.Pro1427Ser
XM_006714316.1:c.4279C>T	XP_006714379.1:p.Pro1427Ser
XM_011532270.1:c.1978C>T	XP_011530572.1:p.Pro660Ser
XM_006714316.3:c.4279C>T	XP_006714379.1:p.Pro1427Ser
NM_025074.7:c.4279C>T MANE Select	NP_079350.5:p.Pro1427Ser
NM_001166133.2:c.4279C>T	NP_001159605.1:p.Pro1427Ser