Canonical Allele Identifier: CA363786128

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768728728
• gnomAD v4: 6-35814690-T-C
• MyVariant Identifiers: chr6:g.35782467T>C (hg19) ; chr6:g.35814690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814690T>C , CM000668.2:g.35814690T>C	GRCh38
NC_000006.11:g.35782467T>C , CM000668.1:g.35782467T>C	GRCh37
NC_000006.10:g.35890445T>C	NCBI36
NG_012184.1:g.14397T>C
NG_012184.2:g.14397T>C
NG_012184.3:g.22485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.557T>C MANE Select	ENSP00000353346.1:p.Ile186Thr
ENST00000496656.2:n.336T>C
ENST00000651132.1:c.557T>C	ENSP00000498322.1:p.Ile186Thr
ENST00000651676.1:c.557T>C	ENSP00000498699.1:p.Ile186Thr
ENST00000651994.1:c.*70-4747T>C	ENSP00000498310.1:n.*70-4747T>C
ENST00000652718.1:c.389T>C	ENSP00000498866.1:p.Ile130Thr
ENST00000360215.2:c.557T>C	ENSP00000353346.1:p.Ile186Thr
ENST00000496656.1:n.336T>C
NM_182548.3:c.557T>C	NP_872354.1:p.Ile186Thr
XM_011514403.1:c.557T>C	XP_011512705.1:p.Ile186Thr
NM_182548.4:c.557T>C MANE Select	NP_872354.1:p.Ile186Thr