Canonical Allele Identifier: CA130187
Gene: KISS1R HGNC NCBI

Linked Data

ClinVar Variation Id: 5759
dbSNP Id: rs104894703
gnomAD v2: 19-918604-T-C
gnomAD v3: 19-918604-T-C
gnomAD v4: 19-918604-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.918604T>C , CM000681.2:g.918604T>C GRCh38
NC_000019.9:g.918604T>C , CM000681.1:g.918604T>C GRCh37
NC_000019.8:g.869604T>C NCBI36
NG_008277.1:g.6263T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234371.10:c.305T>C MANE Select ENSP00000234371.3:p.Leu102Pro
ENST00000234371.9:c.305T>C ENSP00000234371.3:p.Leu102Pro
ENST00000592648.1:c.244+858T>C ENSP00000467666.1:n.244+858T>C
ENST00000606939.2:c.305T>C ENSP00000475639.1:p.Leu102Pro
NM_032551.4:c.305T>C NP_115940.2:p.Leu102Pro
XM_017027382.1:c.305T>C XP_016882871.1:p.Leu102Pro
NM_032551.5:c.305T>C MANE Select NP_115940.2:p.Leu102Pro