Canonical Allele Identifier: CA9564397

Gene: LHB

Linked Data

• ClinVar Variation Id: 518303
• ClinVar RCV Id: RCV000612318 ; RCV001683607
• dbSNP Id: rs6521
• ExAC: 19:49519873 G / C
• gnomAD v2: 19-49519873-G-C
• gnomAD v3: 19-49016616-G-C
• gnomAD v4: 19-49016616-G-C
• MyVariant Identifiers: chr19:g.49519873G>C (hg19) ; chr19:g.49016616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016616G>C , CM000681.2:g.49016616G>C	GRCh38
NC_000019.9:g.49519873G>C , CM000681.1:g.49519873G>C	GRCh37
NC_000019.8:g.54211685G>C	NCBI36
NG_011464.1:g.5475C>G
NG_033041.1:g.27718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.114C>G MANE Select	ENSP00000497294.2:p.Val38=
ENST00000649284.1:n.205C>G
ENST00000221421.6:c.114C>G	ENSP00000221421.1:p.Val38=
ENST00000391869.4:c.108C>G	ENSP00000375742.4:p.Val36=
NM_000894.2:c.114C>G	NP_000885.1:p.Val38=
XM_011526975.1:c.162C>G	XP_011525277.1:p.Val54=
NM_000894.3:c.114C>G MANE Select	NP_000885.1:p.Val38=