Canonical Allele Identifier: CA8120867
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 626358
ClinVar RCV Id: RCV000782356
dbSNP Id: rs779114194
ExAC: 16:67973920 T / C
gnomAD v3: 16-67940017-T-C
gnomAD v4: 16-67940017-T-C
MyVariant Identifiers: chr16:g.67973920T>C (hg19) chr16:g.67940017T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940017T>C , CM000678.2:g.67940017T>C GRCh38
NC_000016.9:g.67973920T>C , CM000678.1:g.67973920T>C GRCh37
NC_000016.8:g.66531421T>C NCBI36
NG_009778.1:g.9096A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1210A>G MANE Select ENSP00000264005.5:p.Met404Val
ENST00000264005.9:c.1210A>G ENSP00000264005.5:p.Met404Val
ENST00000570369.5:c.213A>G
ENST00000573538.5:c.948A>G ENSP00000463220.1:n.948A>G
NM_000229.1:c.1210A>G NP_000220.1:p.Met404Val
NM_000229.2:c.1210A>G MANE Select NP_000220.1:p.Met404Val
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