Canonical Allele Identifier: CA9564377

Gene: LHB

Linked Data

• ClinVar Variation Id: 518301
• ClinVar RCV Id: RCV000600396 ; RCV001683606
• dbSNP Id: rs2387588
• ExAC: 19:49519793 A / G
• gnomAD v2: 19-49519793-A-G
• gnomAD v3: 19-49016536-A-G
• gnomAD v4: 19-49016536-A-G
• MyVariant Identifiers: chr19:g.49519793A>G (hg19) ; chr19:g.49016536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016536A>G , CM000681.2:g.49016536A>G	GRCh38
NC_000019.9:g.49519793A>G , CM000681.1:g.49519793A>G	GRCh37
NC_000019.8:g.54211605A>G	NCBI36
NG_011464.1:g.5555T>C
NG_033041.1:g.27638A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.183+11T>C MANE Select	ENSP00000497294.2:n.183+11T>C
ENST00000649284.1:n.274+11T>C
ENST00000221421.6:c.183+11T>C	ENSP00000221421.1:n.183+11T>C
ENST00000391869.4:c.177+11T>C	ENSP00000375742.4:n.177+11T>C
NM_000894.2:c.183+11T>C	NP_000885.1:n.183+11T>C
XM_011526975.1:c.231+11T>C	XP_011525277.1:n.231+11T>C
NM_000894.3:c.183+11T>C MANE Select	NP_000885.1:n.183+11T>C