Canonical Allele Identifier: CA3774414

Gene: LHFPL5

Linked Data

• dbSNP Id: rs773115228
• ExAC: 6:35782309 T / C
• gnomAD v2: 6-35782309-T-C
• gnomAD v4: 6-35814532-T-C
• MyVariant Identifiers: chr6:g.35782309T>C (hg19) ; chr6:g.35814532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814532T>C , CM000668.2:g.35814532T>C	GRCh38
NC_000006.11:g.35782309T>C , CM000668.1:g.35782309T>C	GRCh37
NC_000006.10:g.35890287T>C	NCBI36
NG_012184.1:g.14239T>C
NG_012184.2:g.14239T>C
NG_012184.3:g.22327T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.413-14T>C MANE Select	ENSP00000353346.1:n.413-14T>C
ENST00000496656.2:n.192-14T>C
ENST00000651132.1:c.413-14T>C	ENSP00000498322.1:n.413-14T>C
ENST00000651676.1:c.413-14T>C	ENSP00000498699.1:n.413-14T>C
ENST00000651994.1:c.*70-4905T>C	ENSP00000498310.1:n.*70-4905T>C
ENST00000652718.1:c.245-14T>C	ENSP00000498866.1:n.245-14T>C
ENST00000360215.2:c.413-14T>C	ENSP00000353346.1:n.413-14T>C
ENST00000496656.1:n.192-14T>C
NM_182548.3:c.413-14T>C	NP_872354.1:n.413-14T>C
XM_011514403.1:c.413-14T>C	XP_011512705.1:n.413-14T>C
NM_182548.4:c.413-14T>C MANE Select	NP_872354.1:n.413-14T>C