Canonical Allele Identifier: CA406777179

Gene: LHB

Linked Data

• COSMIC: COSM1395169
• MyVariant Identifiers: chr19:g.49519404C>T (hg19) ; chr19:g.49016147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49016147C>T , CM000681.2:g.49016147C>T	GRCh38
NC_000019.9:g.49519404C>T , CM000681.1:g.49519404C>T	GRCh37
NC_000019.8:g.54211216C>T	NCBI36
NG_011464.1:g.5944G>A
NG_033041.1:g.27249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649238.3:c.347G>A MANE Select	ENSP00000497294.2:p.Ser116Asn
ENST00000649284.1:n.438G>A
ENST00000221421.6:c.347G>A	ENSP00000221421.1:p.Ser116Asn
ENST00000391869.4:c.341G>A	ENSP00000375742.4:p.Ser114Asn
NM_000894.2:c.347G>A	NP_000885.1:p.Ser116Asn
XM_011526975.1:c.395G>A	XP_011525277.1:p.Ser132Asn
NM_000894.3:c.347G>A MANE Select	NP_000885.1:p.Ser116Asn