Canonical Allele Identifier: CA396376148
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940344-A-G
MyVariant Identifiers: chr16:g.67974247A>G (hg19) chr16:g.67940344A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940344A>G , CM000678.2:g.67940344A>G GRCh38
NC_000016.9:g.67974247A>G , CM000678.1:g.67974247A>G GRCh37
NC_000016.8:g.66531748A>G NCBI36
NG_009778.1:g.8769T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.883T>C MANE Select ENSP00000264005.5:p.Phe295Leu
ENST00000264005.9:c.883T>C ENSP00000264005.5:p.Phe295Leu
ENST00000570369.5:c.156-270T>C
ENST00000570980.1:c.667T>C ENSP00000464651.1:p.Phe223Leu
ENST00000573538.5:c.621T>C ENSP00000463220.1:n.621T>C
NM_000229.1:c.883T>C NP_000220.1:p.Phe295Leu
NM_000229.2:c.883T>C MANE Select NP_000220.1:p.Phe295Leu
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