Canonical Allele Identifier: CA342141961

Gene: HJV

Linked Data

• gnomAD v4: 1-146019473-G-A
• MyVariant Identifiers: chr1:g.145415540C>T (hg19) ; chr1:g.146019473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019473G>A , CM000663.2:g.146019473G>A	GRCh38
NC_000001.10:g.145415540C>T , CM000663.1:g.145415540C>T	GRCh37
NC_000001.9:g.144126897C>T	NCBI36
NG_011568.1:g.7350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.359C>T MANE Select	ENSP00000337014.5:p.Ser120Phe
ENST00000636675.1:c.-22+225C>T	ENSP00000490072.1:n.-22+225C>T
ENST00000336751.10:c.359C>T	ENSP00000337014.5:p.Ser120Phe
ENST00000357836.5:c.20C>T	ENSP00000350495.5:p.Ser7Phe
ENST00000475797.1:c.-21-773C>T	ENSP00000425716.1:n.-21-773C>T
ENST00000497365.5:c.-22+225C>T	ENSP00000421820.1:n.-22+225C>T
ENST00000634927.1:c.134+225C>T	ENSP00000489347.1:n.134+225C>T
NM_001316767.1:c.-22+225C>T	NP_001303696.1:n.-22+225C>T
NM_145277.4:c.20C>T	NP_660320.3:p.Ser7Phe
NM_202004.3:c.-22+225C>T	NP_973733.1:n.-22+225C>T
NM_213652.3:c.-21-773C>T	NP_998817.1:n.-21-773C>T
NM_213653.3:c.359C>T	NP_998818.1:p.Ser120Phe
XM_005272932.1:c.359C>T	XP_005272989.1:p.Ser120Phe
NM_001316767.2:c.-22+225C>T	NP_001303696.1:n.-22+225C>T
NM_145277.5:c.20C>T	NP_660320.3:p.Ser7Phe
NM_202004.4:c.-22+225C>T	NP_973733.1:n.-22+225C>T
NM_213652.4:c.-21-773C>T	NP_998817.1:n.-21-773C>T
NM_001379352.1:c.359C>T	NP_001366281.1:p.Ser120Phe
NM_213653.4:c.359C>T MANE Select	NP_998818.1:p.Ser120Phe