Canonical Allele Identifier: CA10625949

Gene: HOXA1

Linked Data

• ClinVar Variation Id: 359965
• ClinVar RCV Id: RCV000260377 ; RCV000378582 ; RCV002418214
• dbSNP Id: rs886062260
• gnomAD v3: 7-27095697-A-G
• gnomAD v4: 7-27095697-A-G
• MyVariant Identifiers: chr7:g.27135316A>G (hg19) ; chr7:g.27095697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095697A>G , CM000669.2:g.27095697A>G	GRCh38
NC_000007.13:g.27135316A>G , CM000669.1:g.27135316A>G	GRCh37
NC_000007.12:g.27101841A>G	NCBI36
NG_011813.1:g.5310T>C
NG_033087.1:g.4604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.216T>C MANE Select	ENSP00000494260.2:p.His72=
ENST00000343060.4:c.216T>C	ENSP00000343246.4:p.His72=
ENST00000355633.5:c.216T>C	ENSP00000347851.5:p.His72=
NM_005522.4:c.216T>C	NP_005513.1:p.His72=
NM_153620.2:c.216T>C	NP_705873.2:p.His72=
NM_005522.5:c.216T>C MANE Select	NP_005513.2:p.His72=
NM_153620.3:c.216T>C	NP_705873.3:p.His72=