Canonical Allele Identifier: CA478529260
Gene: C3AR1 HGNC NCBI

Linked Data

dbSNP Id: rs1382919589
gnomAD v2: 12-8212431-G-A
gnomAD v4: 12-8059835-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8059835G>A , CM000674.2:g.8059835G>A GRCh38
NC_000012.11:g.8212431G>A , CM000674.1:g.8212431G>A GRCh37
NC_000012.10:g.8103698G>A NCBI36
NG_050736.1:g.11637C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307637.5:c.351C>T MANE Select ENSP00000302079.4:p.Ser117=
ENST00000307637.4:c.351C>T ENSP00000302079.4:p.Ser117=
ENST00000546241.1:c.351C>T ENSP00000444500.1:p.Ser117=
NM_004054.2:c.351C>T NP_004045.1:p.Ser117=
NM_001326475.1:c.351C>T NP_001313404.1:p.Ser117=
NM_001326477.1:c.351C>T NP_001313406.1:p.Ser117=
NM_004054.3:c.351C>T NP_004045.1:p.Ser117=
NM_001326475.2:c.351C>T NP_001313404.1:p.Ser117=
NM_001326477.2:c.351C>T NP_001313406.1:p.Ser117=
NM_004054.4:c.351C>T MANE Select NP_004045.1:p.Ser117=