Canonical Allele Identifier: CA4195961
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731722
ClinVar RCV Id: RCV002337501
dbSNP Id: rs369218661
gnomAD v2: 7-27135186-C-T
gnomAD v3: 7-27095567-C-T
gnomAD v4: 7-27095567-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095567C>T , CM000669.2:g.27095567C>T GRCh38
NC_000007.13:g.27135186C>T , CM000669.1:g.27135186C>T GRCh37
NC_000007.12:g.27101711C>T NCBI36
NG_011813.1:g.5440G>A
NG_033087.1:g.4474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.346G>A MANE Select ENSP00000494260.2:p.Glu116Lys
ENST00000343060.4:c.346G>A ENSP00000343246.4:p.Glu116Lys
ENST00000355633.5:c.346G>A ENSP00000347851.5:p.Glu116Lys
NM_005522.4:c.346G>A NP_005513.1:p.Glu116Lys
NM_153620.2:c.346G>A NP_705873.2:p.Glu116Lys
NM_005522.5:c.346G>A MANE Select NP_005513.2:p.Glu116Lys
NM_153620.3:c.346G>A NP_705873.3:p.Glu116Lys