Canonical Allele Identifier: CA342135226

Gene: HJV

Linked Data

• dbSNP Id: rs1553769457
• gnomAD v2: 1-145416605-G-C
• gnomAD v3: 1-146018408-C-G
• gnomAD v4: 1-146018408-C-G
• MyVariant Identifiers: chr1:g.145416605G>C (hg19) ; chr1:g.146018408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018408C>G , CM000663.2:g.146018408C>G	GRCh38
NC_000001.10:g.145416605G>C , CM000663.1:g.145416605G>C	GRCh37
NC_000001.9:g.144127962G>C	NCBI36
NG_011568.1:g.8415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.950G>C MANE Select	ENSP00000337014.5:p.Cys317Ser
ENST00000636675.1:c.272G>C	ENSP00000490072.1:p.Cys91Ser
ENST00000336751.10:c.950G>C	ENSP00000337014.5:p.Cys317Ser
ENST00000357836.5:c.611G>C	ENSP00000350495.5:p.Cys204Ser
ENST00000475797.1:c.272G>C	ENSP00000425716.1:p.Cys91Ser
ENST00000497365.5:c.272G>C	ENSP00000421820.1:p.Cys91Ser
NM_001316767.1:c.272G>C	NP_001303696.1:p.Cys91Ser
NM_145277.4:c.611G>C	NP_660320.3:p.Cys204Ser
NM_202004.3:c.272G>C	NP_973733.1:p.Cys91Ser
NM_213652.3:c.272G>C	NP_998817.1:p.Cys91Ser
NM_213653.3:c.950G>C	NP_998818.1:p.Cys317Ser
XM_005272932.1:c.950G>C	XP_005272989.1:p.Cys317Ser
NM_001316767.2:c.272G>C	NP_001303696.1:p.Cys91Ser
NM_145277.5:c.611G>C	NP_660320.3:p.Cys204Ser
NM_202004.4:c.272G>C	NP_973733.1:p.Cys91Ser
NM_213652.4:c.272G>C	NP_998817.1:p.Cys91Ser
NM_001379352.1:c.950G>C	NP_001366281.1:p.Cys317Ser
NM_213653.4:c.950G>C MANE Select	NP_998818.1:p.Cys317Ser