Canonical Allele Identifier: CA119006

Gene: HESX1

Linked Data

• ClinVar Variation Id: 7700
• ClinVar RCV Id: RCV000008139 ; RCV001753409 ; RCV002512892
• dbSNP Id: rs121909173
• ExAC: 3:57233929 C / G
• gnomAD v2: 3-57233929-C-G
• gnomAD v3: 3-57199901-C-G
• gnomAD v4: 3-57199901-C-G
• MyVariant Identifiers: chr3:g.57233929C>G (hg19) ; chr3:g.57199901C>G (hg38)
• PubMed: PMID:11136712

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57199901C>G , CM000665.2:g.57199901C>G	GRCh38
NC_000003.11:g.57233929C>G , CM000665.1:g.57233929C>G	GRCh37
NC_000003.10:g.57208969C>G	NCBI36
NG_008242.1:g.5352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295934.8:c.18G>C MANE Select	ENSP00000295934.3:p.Gln6His
ENST00000647958.1:c.18G>C	ENSP00000498190.1:p.Gln6His
ENST00000295934.7:c.18G>C	ENSP00000295934.3:p.Gln6His
ENST00000473921.2:c.18G>C	ENSP00000418918.1:p.Gln6His
ENST00000495160.2:c.18G>C	ENSP00000419615.2:p.Gln6His
NM_003865.2:c.18G>C	NP_003856.1:p.Gln6His
XM_005265526.3:c.18G>C	XP_005265583.1:p.Gln6His
XM_006713379.2:c.18G>C	XP_006713442.1:p.Gln6His
XM_011534204.1:c.18G>C	XP_011532506.1:p.Gln6His
XM_011534205.1:c.18G>C	XP_011532507.1:p.Gln6His
XM_005265526.4:c.18G>C	XP_005265583.1:p.Gln6His
XM_011534204.2:c.18G>C	XP_011532506.1:p.Gln6His
XM_011534205.2:c.18G>C	XP_011532507.1:p.Gln6His
XM_017007421.1:c.18G>C	XP_016862910.1:p.Gln6His
XM_024453809.1:c.18G>C	XP_024309577.1:p.Gln6His
NM_003865.3:c.18G>C MANE Select	NP_003856.1:p.Gln6His
NM_001376058.1:c.18G>C	NP_001362987.1:p.Gln6His
NM_001376059.1:c.18G>C	NP_001362988.1:p.Gln6His
NM_001376060.1:c.18G>C	NP_001362989.1:p.Gln6His
NM_001376061.1:c.18G>C	NP_001362990.1:p.Gln6His
NR_164757.1:n.851-1409G>C