Canonical Allele Identifier: CA4195941
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359962
ClinVar RCV Id: RCV000272482 RCV000287158 RCV000362467 RCV002311428
dbSNP Id: rs45571645
ExAC: 7:27135096 G / T
gnomAD v2: 7-27135096-G-T
gnomAD v3: 7-27095477-G-T
gnomAD v4: 7-27095477-G-T
MyVariant Identifiers: chr7:g.27135096G>T (hg19) chr7:g.27095477G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095477G>T , CM000669.2:g.27095477G>T GRCh38
NC_000007.13:g.27135096G>T , CM000669.1:g.27135096G>T GRCh37
NC_000007.12:g.27101621G>T NCBI36
NG_011813.1:g.5530C>A
NG_033087.1:g.4384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.436C>A MANE Select ENSP00000494260.2:p.His146Asn
ENST00000343060.4:c.436C>A ENSP00000343246.4:p.His146Asn
ENST00000355633.5:c.354+82C>A ENSP00000347851.5:n.354+82C>A
NM_005522.4:c.436C>A NP_005513.1:p.His146Asn
NM_153620.2:c.354+82C>A NP_705873.2:n.354+82C>A
NM_005522.5:c.436C>A MANE Select NP_005513.2:p.His146Asn
NM_153620.3:c.354+82C>A NP_705873.3:n.354+82C>A
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