Canonical Allele Identifier: CA1345140
Gene: KISS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501504
ClinVar RCV Id: RCV000591689 RCV000986506 RCV000961915
dbSNP Id: rs201073751
ExAC: 1:204159761 G / C
gnomAD v2: 1-204159761-G-C
gnomAD v3: 1-204190633-G-C
gnomAD v4: 1-204190633-G-C
MyVariant Identifiers: chr1:g.204159761G>C (hg19) chr1:g.204190633G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190633G>C , CM000663.2:g.204190633G>C GRCh38
NC_000001.10:g.204159761G>C , CM000663.1:g.204159761G>C GRCh37
NC_000001.9:g.202426384G>C NCBI36
NG_032151.1:g.10859C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.268C>G MANE Select ENSP00000356162.4:p.His90Asp
ENST00000367194.4:c.268C>G ENSP00000356162.4:p.His90Asp
ENST00000625357.1:c.268C>G ENSP00000485957.1:p.His90Asp
NM_002256.3:c.268C>G NP_002247.3:p.His90Asp
XM_011509525.1:c.268C>G XP_011507827.1:p.His90Asp
NM_002256.4:c.268C>G MANE Select NP_002247.3:p.His90Asp
Search 100 bp 5'
Search 100 bp 3'