Canonical Allele Identifier: CA4195926

Gene: HOXA1

Linked Data

• ClinVar Variation Id: 705897
• ClinVar RCV Id: RCV000876334 ; RCV003967932
• dbSNP Id: rs371251168
• ExAC: 7:27135022 G / A
• gnomAD v2: 7-27135022-G-A
• gnomAD v3: 7-27095403-G-A
• gnomAD v4: 7-27095403-G-A
• MyVariant Identifiers: chr7:g.27135022G>A (hg19) ; chr7:g.27095403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095403G>A , CM000669.2:g.27095403G>A	GRCh38
NC_000007.13:g.27135022G>A , CM000669.1:g.27135022G>A	GRCh37
NC_000007.12:g.27101547G>A	NCBI36
NG_011813.1:g.5604C>T
NG_033087.1:g.4310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643460.2:c.510C>T MANE Select	ENSP00000494260.2:p.Ser170=
ENST00000343060.4:c.510C>T	ENSP00000343246.4:p.Ser170=
ENST00000355633.5:c.355-48C>T	ENSP00000347851.5:n.355-48C>T
NM_005522.4:c.510C>T	NP_005513.1:p.Ser170=
NM_153620.2:c.355-48C>T	NP_705873.2:n.355-48C>T
NM_005522.5:c.510C>T MANE Select	NP_005513.2:p.Ser170=
NM_153620.3:c.355-48C>T	NP_705873.3:n.355-48C>T