Canonical Allele Identifier: CA396375487
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1286699695
gnomAD v4: 16-67940029-G-A
MyVariant Identifiers: chr16:g.67973932G>A (hg19) chr16:g.67940029G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940029G>A , CM000678.2:g.67940029G>A GRCh38
NC_000016.9:g.67973932G>A , CM000678.1:g.67973932G>A GRCh37
NC_000016.8:g.66531433G>A NCBI36
NG_009778.1:g.9084C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1198C>T MANE Select ENSP00000264005.5:p.Gln400Ter
ENST00000264005.9:c.1198C>T ENSP00000264005.5:p.Gln400Ter
ENST00000570369.5:c.201C>T
ENST00000573538.5:c.936C>T ENSP00000463220.1:n.936C>T
NM_000229.1:c.1198C>T NP_000220.1:p.Gln400Ter
NM_000229.2:c.1198C>T MANE Select NP_000220.1:p.Gln400Ter
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