Canonical Allele Identifier: CA10621963
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356478
ClinVar RCV Id: RCV000382195
dbSNP Id: rs187215821
gnomAD v2: 6-35773111-G-T
gnomAD v3: 6-35805334-G-T
gnomAD v4: 6-35805334-G-T
MyVariant Identifiers: chr6:g.35773111G>T (hg19) chr6:g.35805334G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805334G>T , CM000668.2:g.35805334G>T GRCh38
NC_000006.11:g.35773111G>T , CM000668.1:g.35773111G>T GRCh37
NC_000006.10:g.35881089G>T NCBI36
NG_012184.1:g.5041G>T
NG_012184.2:g.5041G>T
NG_012184.3:g.13129G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651132.1:c.-134-203G>T ENSP00000498322.1:n.-134-203G>T
ENST00000651994.1:c.-337G>T ENSP00000498310.1:n.-337G>T
ENST00000360215.2:c.-337G>T ENSP00000353346.1:n.-337G>T
NM_182548.3:c.-337G>T NP_872354.1:n.-337G>T
XM_011514403.1:c.-134-203G>T XP_011512705.1:n.-134-203G>T
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