Canonical Allele Identifier: CA566703602

Gene: LHFPL5

Linked Data

• dbSNP Id: rs370048794
• gnomAD v2: 6-35782306-C-T
• gnomAD v3: 6-35814529-C-T
• gnomAD v4: 6-35814529-C-T
• MyVariant Identifiers: chr6:g.35782306C>T (hg19) ; chr6:g.35814529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814529C>T , CM000668.2:g.35814529C>T	GRCh38
NC_000006.11:g.35782306C>T , CM000668.1:g.35782306C>T	GRCh37
NC_000006.10:g.35890284C>T	NCBI36
NG_012184.1:g.14236C>T
NG_012184.2:g.14236C>T
NG_012184.3:g.22324C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.413-17C>T MANE Select	ENSP00000353346.1:n.413-17C>T
ENST00000496656.2:n.192-17C>T
ENST00000651132.1:c.413-17C>T	ENSP00000498322.1:n.413-17C>T
ENST00000651676.1:c.413-17C>T	ENSP00000498699.1:n.413-17C>T
ENST00000651994.1:c.*70-4908C>T	ENSP00000498310.1:n.*70-4908C>T
ENST00000652718.1:c.245-17C>T	ENSP00000498866.1:n.245-17C>T
ENST00000360215.2:c.413-17C>T	ENSP00000353346.1:n.413-17C>T
ENST00000496656.1:n.192-17C>T
NM_182548.3:c.413-17C>T	NP_872354.1:n.413-17C>T
XM_011514403.1:c.413-17C>T	XP_011512705.1:n.413-17C>T
NM_182548.4:c.413-17C>T MANE Select	NP_872354.1:n.413-17C>T