Canonical Allele Identifier: CA367069514
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 909395
ClinVar RCV Id: RCV001160431
dbSNP Id: rs1783812000
gnomAD v4: 7-27095791-G-A
COSMIC: COSM3880383
MyVariant Identifiers: chr7:g.27135410G>A (hg19) chr7:g.27095791G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095791G>A , CM000669.2:g.27095791G>A GRCh38
NC_000007.13:g.27135410G>A , CM000669.1:g.27135410G>A GRCh37
NC_000007.12:g.27101935G>A NCBI36
NG_011813.1:g.5216C>T
NG_033087.1:g.4698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.122C>T MANE Select ENSP00000494260.2:p.Ala41Val
ENST00000343060.4:c.122C>T ENSP00000343246.4:p.Ala41Val
ENST00000355633.5:c.122C>T ENSP00000347851.5:p.Ala41Val
NM_005522.4:c.122C>T NP_005513.1:p.Ala41Val
NM_153620.2:c.122C>T NP_705873.2:p.Ala41Val
NM_005522.5:c.122C>T MANE Select NP_005513.2:p.Ala41Val
NM_153620.3:c.122C>T NP_705873.3:p.Ala41Val
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