Canonical Allele Identifier: CA117720
Gene: KISS1R HGNC NCBI

Linked Data

ClinVar Variation Id: 5760
dbSNP Id: rs121908499
gnomAD v2: 19-920708-G-C
gnomAD v3: 19-920708-G-C
gnomAD v4: 19-920708-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.920708G>C , CM000681.2:g.920708G>C GRCh38
NC_000019.9:g.920708G>C , CM000681.1:g.920708G>C GRCh37
NC_000019.8:g.871708G>C NCBI36
NG_008277.1:g.8367G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234371.10:c.1157G>C MANE Select ENSP00000234371.3:p.Arg386Pro
ENST00000234371.9:c.1157G>C ENSP00000234371.3:p.Arg386Pro
ENST00000606939.2:c.924G>C ENSP00000475639.1:n.924G>C
NM_032551.4:c.1157G>C NP_115940.2:p.Arg386Pro
NM_032551.5:c.1157G>C MANE Select NP_115940.2:p.Arg386Pro