Canonical Allele Identifier: CA1087852145

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768919042
• gnomAD v3: 6-35823569-G-T
• gnomAD v4: 6-35823569-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823569G>T , CM000668.2:g.35823569G>T	GRCh38
NC_000006.11:g.35791346G>T , CM000668.1:g.35791346G>T	GRCh37
NC_000006.10:g.35899324G>T	NCBI36
NG_012184.1:g.23276G>T
NG_012184.2:g.23276G>T
NG_012184.3:g.31364G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.*604G>T MANE Select	ENSP00000353346.1:n.*604G>T
ENST00000496656.2:n.578+3749G>T
ENST00000651132.1:c.*604G>T	ENSP00000498322.1:n.*604G>T
ENST00000651676.1:c.*16+4106G>T	ENSP00000498699.1:n.*16+4106G>T
ENST00000651994.1:c.*684G>T	ENSP00000498310.1:n.*684G>T
ENST00000652718.1:c.508+4106G>T	ENSP00000498866.1:n.508+4106G>T
ENST00000360215.2:c.*604G>T	ENSP00000353346.1:n.*604G>T
ENST00000496656.1:n.812+3749G>T
NM_182548.3:c.*604G>T	NP_872354.1:n.*604G>T
NM_182548.4:c.*604G>T MANE Select	NP_872354.1:n.*604G>T