Canonical Allele Identifier: CA137313968

Gene: LHFPL5

Linked Data

• dbSNP Id: rs531482914
• gnomAD v2: 6-35791551-C-T
• gnomAD v3: 6-35823774-C-T
• gnomAD v4: 6-35823774-C-T
• MyVariant Identifiers: chr6:g.35791551C>T (hg19) ; chr6:g.35823774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823774C>T , CM000668.2:g.35823774C>T	GRCh38
NC_000006.11:g.35791551C>T , CM000668.1:g.35791551C>T	GRCh37
NC_000006.10:g.35899529C>T	NCBI36
NG_012184.1:g.23481C>T
NG_012184.2:g.23481C>T
NG_012184.3:g.31569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*809C>T MANE Select	ENSP00000353346.1:n.*809C>T
ENST00000496656.2:n.578+3954C>T
ENST00000651132.1:c.*809C>T	ENSP00000498322.1:n.*809C>T
ENST00000651676.1:c.*16+4311C>T	ENSP00000498699.1:n.*16+4311C>T
ENST00000651994.1:c.*889C>T	ENSP00000498310.1:n.*889C>T
ENST00000652718.1:c.508+4311C>T	ENSP00000498866.1:n.508+4311C>T
ENST00000360215.2:c.*809C>T	ENSP00000353346.1:n.*809C>T
ENST00000496656.1:n.812+3954C>T
NM_182548.3:c.*809C>T	NP_872354.1:n.*809C>T
NM_182548.4:c.*809C>T MANE Select	NP_872354.1:n.*809C>T