Canonical Allele Identifier: CA4384592

Gene: LRCH4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100578739C>T , CM000669.2:g.100578739C>T	GRCh38
NC_000007.13:g.100176362C>T , CM000669.1:g.100176362C>T	GRCh37
NC_000007.12:g.100014298C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485554.6:c.646G>A	ENSP00000419674.2:p.Val216Ile
ENST00000310300.11:c.646G>A MANE Select	ENSP00000309689.6:p.Val216Ile
ENST00000310300.10:c.646G>A	ENSP00000309689.6:p.Val216Ile
ENST00000467201.5:n.2135G>A
ENST00000487697.1:n.1G>A
ENST00000497245.2:c.-711G>A	ENSP00000419870.1:n.-711G>A
ENST00000619071.4:c.-906G>A	ENSP00000483999.1:n.-906G>A
NM_001289934.1:c.646G>A	NP_001276863.1:p.Val216Ile
NM_002319.4:c.646G>A	NP_002310.2:p.Val216Ile
NM_002319.5:c.646G>A MANE Select	NP_002310.2:p.Val216Ile
NM_001289934.2:c.646G>A	NP_001276863.1:p.Val216Ile