Canonical Allele Identifier: CA5177379

Gene: FRRS1L

Linked Data

• ClinVar Variation Id: 476307
• ClinVar RCV Id: RCV000544819 ; RCV001584359
• dbSNP Id: rs148986846
• ExAC: 9:111903799 A / G
• gnomAD v2: 9-111903799-A-G
• gnomAD v3: 9-109141519-A-G
• gnomAD v4: 9-109141519-A-G
• MyVariant Identifiers: chr9:g.111903799A>G (hg19) ; chr9:g.109141519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109141519A>G , CM000671.2:g.109141519A>G	GRCh38
NC_000009.11:g.111903799A>G , CM000671.1:g.111903799A>G	GRCh37
NC_000009.10:g.110943620A>G	NCBI36
NG_051235.1:g.30773T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561981.5:c.533T>C MANE Select	ENSP00000477141.2:p.Val178Ala
ENST00000642157.1:n.2768T>C
ENST00000644736.1:c.530T>C
ENST00000644747.1:c.313T>C	ENSP00000493964.1:n.313T>C
ENST00000645180.1:n.1284T>C
ENST00000561981.2:c.686T>C	ENSP00000477141.1:p.Val229Ala
NM_014334.2:c.686T>C	NP_055149.2:p.Val229Ala
XM_011518453.1:c.338T>C	XP_011516755.1:p.Val113Ala
XM_011518454.1:c.338T>C	XP_011516756.1:p.Val113Ala
NM_014334.3:c.686T>C	NP_055149.2:p.Val229Ala
XM_011518454.3:c.338T>C	XP_011516756.1:p.Val113Ala
NM_014334.4:c.533T>C MANE Select	NP_055149.3:p.Val178Ala