Canonical Allele Identifier: CA363785231

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35806070-C-A
• MyVariant Identifiers: chr6:g.35773847C>A (hg19) ; chr6:g.35806070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35806070C>A , CM000668.2:g.35806070C>A	GRCh38
NC_000006.11:g.35773847C>A , CM000668.1:g.35773847C>A	GRCh37
NC_000006.10:g.35881825C>A	NCBI36
NG_012184.1:g.5777C>A
NG_012184.2:g.5777C>A
NG_012184.3:g.13865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.400C>A MANE Select	ENSP00000353346.1:p.Gln134Lys
ENST00000651132.1:c.400C>A	ENSP00000498322.1:p.Gln134Lys
ENST00000651676.1:c.400C>A	ENSP00000498699.1:p.Gln134Lys
ENST00000651994.1:c.400C>A	ENSP00000498310.1:p.Gln134Lys
ENST00000652718.1:c.232C>A	ENSP00000498866.1:p.Gln78Lys
ENST00000360215.2:c.400C>A	ENSP00000353346.1:p.Gln134Lys
NM_182548.3:c.400C>A	NP_872354.1:p.Gln134Lys
XM_011514403.1:c.400C>A	XP_011512705.1:p.Gln134Lys
NM_182548.4:c.400C>A MANE Select	NP_872354.1:p.Gln134Lys