Canonical Allele Identifier: CA396375451
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940014-C-G
MyVariant Identifiers: chr16:g.67973917C>G (hg19) chr16:g.67940014C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940014C>G , CM000678.2:g.67940014C>G GRCh38
NC_000016.9:g.67973917C>G , CM000678.1:g.67973917C>G GRCh37
NC_000016.8:g.66531418C>G NCBI36
NG_009778.1:g.9099G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1213G>C MANE Select ENSP00000264005.5:p.Val405Leu
ENST00000264005.9:c.1213G>C ENSP00000264005.5:p.Val405Leu
ENST00000570369.5:c.216G>C
ENST00000573538.5:c.951G>C ENSP00000463220.1:n.951G>C
NM_000229.1:c.1213G>C NP_000220.1:p.Val405Leu
NM_000229.2:c.1213G>C MANE Select NP_000220.1:p.Val405Leu
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