Canonical Allele Identifier: CA3774325
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 228800
ClinVar RCV Id: RCV000218391 RCV000946938 RCV001152591
dbSNP Id: rs149941106
ExAC: 6:35773490 C / T
gnomAD v2: 6-35773490-C-T
gnomAD v3: 6-35805713-C-T
gnomAD v4: 6-35805713-C-T
MyVariant Identifiers: chr6:g.35773490C>T (hg19) chr6:g.35805713C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805713C>T , CM000668.2:g.35805713C>T GRCh38
NC_000006.11:g.35773490C>T , CM000668.1:g.35773490C>T GRCh37
NC_000006.10:g.35881468C>T NCBI36
NG_012184.1:g.5420C>T
NG_012184.2:g.5420C>T
NG_012184.3:g.13508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.43C>T MANE Select ENSP00000353346.1:p.His15Tyr
ENST00000651132.1:c.43C>T ENSP00000498322.1:p.His15Tyr
ENST00000651676.1:c.43C>T ENSP00000498699.1:p.His15Tyr
ENST00000651994.1:c.43C>T ENSP00000498310.1:p.His15Tyr
ENST00000360215.2:c.43C>T ENSP00000353346.1:p.His15Tyr
NM_182548.3:c.43C>T NP_872354.1:p.His15Tyr
XM_011514403.1:c.43C>T XP_011512705.1:p.His15Tyr
NM_182548.4:c.43C>T MANE Select NP_872354.1:p.His15Tyr
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