Canonical Allele Identifier: CA573469485
Gene: GHRHR HGNC NCBI

Linked Data

dbSNP Id: rs1238435326
gnomAD v2: 7-31008611-C-T
gnomAD v3: 7-30968996-C-T
gnomAD v4: 7-30968996-C-T
MyVariant Identifiers: chr7:g.31008611C>T (hg19) chr7:g.30968996C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968996C>T , CM000669.2:g.30968996C>T GRCh38
NC_000007.13:g.31008611C>T , CM000669.1:g.31008611C>T GRCh37
NC_000007.12:g.30975136C>T NCBI36
NG_021416.1:g.9976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.160+60C>T MANE Select ENSP00000320180.2:n.160+60C>T
ENST00000326139.6:c.160+60C>T ENSP00000320180.2:n.160+60C>T
NM_000823.3:c.160+60C>T NP_000814.2:n.160+60C>T
NM_000823.4:c.160+60C>T MANE Select NP_000814.2:n.160+60C>T
Search 100 bp 5'
Search 100 bp 3'