Canonical Allele Identifier: CA396375395
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1215310541
gnomAD v3: 16-67939989-T-G
gnomAD v4: 16-67939989-T-G
MyVariant Identifiers: chr16:g.67973892T>G (hg19) chr16:g.67939989T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939989T>G , CM000678.2:g.67939989T>G GRCh38
NC_000016.9:g.67973892T>G , CM000678.1:g.67973892T>G GRCh37
NC_000016.8:g.66531393T>G NCBI36
NG_009778.1:g.9124A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1238A>C MANE Select ENSP00000264005.5:p.His413Pro
ENST00000264005.9:c.1238A>C ENSP00000264005.5:p.His413Pro
ENST00000570369.5:c.241A>C
ENST00000573538.5:c.976A>C ENSP00000463220.1:n.976A>C
NM_000229.1:c.1238A>C NP_000220.1:p.His413Pro
NM_000229.2:c.1238A>C MANE Select NP_000220.1:p.His413Pro
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