Canonical Allele Identifier: CA11350957
Gene: HRH1 HGNC NCBI

Linked Data

dbSNP Id: rs4684059
gnomAD v2: 3-11232779-G-C
gnomAD v3: 3-11191093-G-C
gnomAD v4: 3-11191093-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.11191093G>C , CM000665.2:g.11191093G>C GRCh38
NC_000003.11:g.11232779G>C , CM000665.1:g.11232779G>C GRCh37
NC_000003.10:g.11207779G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000431010.3:c.-36+36539G>C MANE Select ENSP00000397028.2:n.-36+36539G>C
ENST00000431010.2:c.-36+36539G>C ENSP00000397028.2:n.-36+36539G>C
ENST00000438284.2:c.-36+53694G>C ENSP00000406705.2:n.-36+53694G>C
NM_001098212.1:c.-36+36539G>C NP_001091682.1:n.-36+36539G>C
NM_001098213.1:c.-36+53694G>C NP_001091683.1:n.-36+53694G>C
XM_011533653.1:c.-36+35962G>C XP_011531955.1:n.-36+35962G>C
XM_011533653.2:c.-36+35962G>C XP_011531955.1:n.-36+35962G>C
XM_017006284.1:c.-36+35204G>C XP_016861773.1:n.-36+35204G>C
NM_001098212.2:c.-36+36539G>C MANE Select NP_001091682.1:n.-36+36539G>C
NM_001098213.2:c.-36+53694G>C NP_001091683.1:n.-36+53694G>C