Canonical Allele Identifier: CA266675573

Gene: HHIPL1

Linked Data

• dbSNP Id: rs759093071
• gnomAD v3: 14-99609461-C-G
• gnomAD v4: 14-99609461-C-G
• MyVariant Identifiers: chr14:g.100075798C>G (hg19) ; chr14:g.99609461C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99609461C>G , CM000676.2:g.99609461C>G	GRCh38
NC_000014.8:g.100075798C>G , CM000676.1:g.100075798C>G	GRCh37
NC_000014.7:g.99145551C>G	NCBI36
NG_051108.1:g.9986C>G

Transcript Alleles

HGVS	Amino-acid change
XM_006720277.2:c.-199+4846C>G	XP_006720340.1:n.-199+4846C>G
XM_011537236.1:c.-287+4846C>G	XP_011535538.1:n.-287+4846C>G
NM_001329411.1:c.-287+4846C>G	NP_001316340.1:n.-287+4846C>G
XM_006720277.3:c.-199+4846C>G	XP_006720340.1:n.-199+4846C>G
XM_011537236.2:c.-287+4846C>G	XP_011535538.1:n.-287+4846C>G
NM_001329411.2:c.-287+4846C>G	NP_001316340.1:n.-287+4846C>G