Canonical Allele Identifier: CA156111458
Gene: GHRHR HGNC NCBI

Linked Data

dbSNP Id: rs948242768
gnomAD v2: 7-31008612-C-T
gnomAD v3: 7-30968997-C-T
gnomAD v4: 7-30968997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968997C>T , CM000669.2:g.30968997C>T GRCh38
NC_000007.13:g.31008612C>T , CM000669.1:g.31008612C>T GRCh37
NC_000007.12:g.30975137C>T NCBI36
NG_021416.1:g.9977C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.160+61C>T MANE Select ENSP00000320180.2:n.160+61C>T
ENST00000326139.6:c.160+61C>T ENSP00000320180.2:n.160+61C>T
NM_000823.3:c.160+61C>T NP_000814.2:n.160+61C>T
NM_000823.4:c.160+61C>T MANE Select NP_000814.2:n.160+61C>T