Canonical Allele Identifier: CA342143826

Gene: HJV

Linked Data

• dbSNP Id: rs1441174539
• gnomAD v4: 1-146019692-A-C
• MyVariant Identifiers: chr1:g.145415321T>G (hg19) ; chr1:g.146019692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019692A>C , CM000663.2:g.146019692A>C	GRCh38
NC_000001.10:g.145415321T>G , CM000663.1:g.145415321T>G	GRCh37
NC_000001.9:g.144126678T>G	NCBI36
NG_011568.1:g.7131T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.140T>G MANE Select	ENSP00000337014.5:p.Val47Gly
ENST00000636675.1:c.-22+6T>G	ENSP00000490072.1:n.-22+6T>G
ENST00000336751.10:c.140T>G	ENSP00000337014.5:p.Val47Gly
ENST00000357836.5:c.-200T>G	ENSP00000350495.5:n.-200T>G
ENST00000421822.2:c.140T>G	ENSP00000411863.2:p.Val47Gly
ENST00000475797.1:c.-21-992T>G	ENSP00000425716.1:n.-21-992T>G
ENST00000497365.5:c.-22+6T>G	ENSP00000421820.1:n.-22+6T>G
ENST00000634927.1:c.134+6T>G	ENSP00000489347.1:n.134+6T>G
NM_001316767.1:c.-22+6T>G	NP_001303696.1:n.-22+6T>G
NM_145277.4:c.-200T>G	NP_660320.3:n.-200T>G
NM_202004.3:c.-22+6T>G	NP_973733.1:n.-22+6T>G
NM_213652.3:c.-21-992T>G	NP_998817.1:n.-21-992T>G
NM_213653.3:c.140T>G	NP_998818.1:p.Val47Gly
XM_005272932.1:c.140T>G	XP_005272989.1:p.Val47Gly
NM_001316767.2:c.-22+6T>G	NP_001303696.1:n.-22+6T>G
NM_145277.5:c.-200T>G	NP_660320.3:n.-200T>G
NM_202004.4:c.-22+6T>G	NP_973733.1:n.-22+6T>G
NM_213652.4:c.-21-992T>G	NP_998817.1:n.-21-992T>G
NM_001379352.1:c.140T>G	NP_001366281.1:p.Val47Gly
NM_213653.4:c.140T>G MANE Select	NP_998818.1:p.Val47Gly