Canonical Allele Identifier: CA9564291

Gene: LHB

Linked Data

• ClinVar Variation Id: 818213
• ClinVar RCV Id: RCV001009619 ; RCV001759689
• dbSNP Id: rs149003040
• ExAC: 19:49519465 C / T
• gnomAD v2: 19-49519465-C-T
• gnomAD v3: 19-49016208-C-T
• gnomAD v4: 19-49016208-C-T
• COSMIC: COSM240485
• MyVariant Identifiers: chr19:g.49519465C>T (hg19) ; chr19:g.49016208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016208C>T , CM000681.2:g.49016208C>T	GRCh38
NC_000019.9:g.49519465C>T , CM000681.1:g.49519465C>T	GRCh37
NC_000019.8:g.54211277C>T	NCBI36
NG_011464.1:g.5883G>A
NG_033041.1:g.27310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.286G>A MANE Select	ENSP00000497294.2:p.Val96Met
ENST00000649284.1:n.377G>A
ENST00000221421.6:c.286G>A	ENSP00000221421.1:p.Val96Met
ENST00000391869.4:c.280G>A	ENSP00000375742.4:p.Val94Met
NM_000894.2:c.286G>A	NP_000885.1:p.Val96Met
XM_011526975.1:c.334G>A	XP_011525277.1:p.Val112Met
NM_000894.3:c.286G>A MANE Select	NP_000885.1:p.Val96Met