Canonical Allele Identifier: CA396375371
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67939978-T-C
MyVariant Identifiers: chr16:g.67973881T>C (hg19) chr16:g.67939978T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939978T>C , CM000678.2:g.67939978T>C GRCh38
NC_000016.9:g.67973881T>C , CM000678.1:g.67973881T>C GRCh37
NC_000016.8:g.66531382T>C NCBI36
NG_009778.1:g.9135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1249A>G MANE Select ENSP00000264005.5:p.Ile417Val
ENST00000264005.9:c.1249A>G ENSP00000264005.5:p.Ile417Val
ENST00000570369.5:c.252A>G
ENST00000573538.5:c.987A>G ENSP00000463220.1:n.987A>G
NM_000229.1:c.1249A>G NP_000220.1:p.Ile417Val
NM_000229.2:c.1249A>G MANE Select NP_000220.1:p.Ile417Val
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