Canonical Allele Identifier: CA566495580

Gene: LHFPL5

Linked Data

• dbSNP Id: rs557908593
• gnomAD v2: 6-35790901-C-T
• gnomAD v3: 6-35823124-C-T
• gnomAD v4: 6-35823124-C-T
• MyVariant Identifiers: chr6:g.35790901C>T (hg19) ; chr6:g.35823124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823124C>T , CM000668.2:g.35823124C>T	GRCh38
NC_000006.11:g.35790901C>T , CM000668.1:g.35790901C>T	GRCh37
NC_000006.10:g.35898879C>T	NCBI36
NG_012184.1:g.22831C>T
NG_012184.2:g.22831C>T
NG_012184.3:g.30919C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.*159C>T MANE Select	ENSP00000353346.1:n.*159C>T
ENST00000496656.2:n.578+3304C>T
ENST00000651132.1:c.*159C>T	ENSP00000498322.1:n.*159C>T
ENST00000651676.1:c.*16+3661C>T	ENSP00000498699.1:n.*16+3661C>T
ENST00000651994.1:c.*239C>T	ENSP00000498310.1:n.*239C>T
ENST00000652718.1:c.508+3661C>T	ENSP00000498866.1:n.508+3661C>T
ENST00000360215.2:c.*159C>T	ENSP00000353346.1:n.*159C>T
ENST00000496656.1:n.812+3304C>T
NM_182548.3:c.*159C>T	NP_872354.1:n.*159C>T
XM_011514403.1:c.*159C>T	XP_011512705.1:n.*159C>T
NM_182548.4:c.*159C>T MANE Select	NP_872354.1:n.*159C>T