Canonical Allele Identifier: CA1345185

Gene: KISS1

Linked Data

• dbSNP Id: rs1160701539
• ExAC: 1:204159890 C / G
• gnomAD v2: 1-204159890-C-G
• gnomAD v3: 1-204190762-C-G
• gnomAD v4: 1-204190762-C-G
• MyVariant Identifiers: chr1:g.204159890C>G (hg19) ; chr1:g.204159890_204159892delinsGGG (hg19) ; chr1:g.204190762C>G (hg38) ; chr1:g.204190762_204190764delinsGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204190762C>G , CM000663.2:g.204190762C>G	GRCh38
NC_000001.10:g.204159890C>G , CM000663.1:g.204159890C>G	GRCh37
NC_000001.9:g.202426513C>G	NCBI36
NG_032151.1:g.10730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367194.5:c.139G>C MANE Select	ENSP00000356162.4:p.Gly47Arg
ENST00000367194.4:c.139G>C	ENSP00000356162.4:p.Gly47Arg
ENST00000625357.1:c.139G>C	ENSP00000485957.1:p.Gly47Arg
NM_002256.3:c.139G>C	NP_002247.3:p.Gly47Arg
XM_011509525.1:c.139G>C	XP_011507827.1:p.Gly47Arg
NM_002256.4:c.139G>C MANE Select	NP_002247.3:p.Gly47Arg