Canonical Allele Identifier: CA4683682

Gene: GNRH1

Linked Data

• ClinVar Variation Id: 362653
• ClinVar RCV Id: RCV000352875
• dbSNP Id: rs765427927
• ExAC: 8:25280876 A / G
• gnomAD v2: 8-25280876-A-G
• gnomAD v3: 8-25423360-A-G
• gnomAD v4: 8-25423360-A-G
• MyVariant Identifiers: chr8:g.25280876A>G (hg19) ; chr8:g.25423360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.25423360A>G , CM000670.2:g.25423360A>G	GRCh38
NC_000008.10:g.25280876A>G , CM000670.1:g.25280876A>G	GRCh37
NC_000008.9:g.25336793A>G	NCBI36
NG_016457.1:g.6681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421054.7:c.-1-29T>C MANE Select	ENSP00000391280.2:n.-1-29T>C
ENST00000276414.4:c.-30T>C	ENSP00000276414.4:n.-30T>C
ENST00000421054.6:c.-1-29T>C	ENSP00000391280.2:n.-1-29T>C
NM_000825.3:c.-18T>C	NP_000816.4:n.-18T>C
NM_001083111.1:c.-1-29T>C	NP_001076580.1:n.-1-29T>C
NM_001083111.2:c.-1-29T>C MANE Select	NP_001076580.1:n.-1-29T>C