Canonical Allele Identifier: CA342137297

Gene: HJV

Linked Data

• ClinVar Variation Id: 1119629
• ClinVar RCV Id: RCV001449107
• dbSNP Id: rs148524451
• MyVariant Identifiers: chr1:g.145416411C>A (hg19) ; chr1:g.146018602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018602G>T , CM000663.2:g.146018602G>T	GRCh38
NC_000001.10:g.145416411C>A , CM000663.1:g.145416411C>A	GRCh37
NC_000001.9:g.144127768C>A	NCBI36
NG_011568.1:g.8221C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.756C>A MANE Select	ENSP00000337014.5:p.Ile252=
ENST00000636675.1:c.78C>A	ENSP00000490072.1:p.Ile26=
ENST00000336751.10:c.756C>A	ENSP00000337014.5:p.Ile252=
ENST00000357836.5:c.417C>A	ENSP00000350495.5:p.Ile139=
ENST00000475797.1:c.78C>A	ENSP00000425716.1:p.Ile26=
ENST00000497365.5:c.78C>A	ENSP00000421820.1:p.Ile26=
ENST00000634927.1:c.*20C>A	ENSP00000489347.1:n.*20C>A
NM_001316767.1:c.78C>A	NP_001303696.1:p.Ile26=
NM_145277.4:c.417C>A	NP_660320.3:p.Ile139=
NM_202004.3:c.78C>A	NP_973733.1:p.Ile26=
NM_213652.3:c.78C>A	NP_998817.1:p.Ile26=
NM_213653.3:c.756C>A	NP_998818.1:p.Ile252=
XM_005272932.1:c.756C>A	XP_005272989.1:p.Ile252=
NM_001316767.2:c.78C>A	NP_001303696.1:p.Ile26=
NM_145277.5:c.417C>A	NP_660320.3:p.Ile139=
NM_202004.4:c.78C>A	NP_973733.1:p.Ile26=
NM_213652.4:c.78C>A	NP_998817.1:p.Ile26=
NM_001379352.1:c.756C>A	NP_001366281.1:p.Ile252=
NM_213653.4:c.756C>A MANE Select	NP_998818.1:p.Ile252=