Canonical Allele Identifier: CA8120965
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs756001584
ExAC: 16:67974399 G / A
gnomAD v2: 16-67974399-G-A
gnomAD v4: 16-67940496-G-A
MyVariant Identifiers: chr16:g.67974399G>A (hg19) chr16:g.67940496G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940496G>A , CM000678.2:g.67940496G>A GRCh38
NC_000016.9:g.67974399G>A , CM000678.1:g.67974399G>A GRCh37
NC_000016.8:g.66531900G>A NCBI36
NG_009778.1:g.8617C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.749-18C>T MANE Select ENSP00000264005.5:n.749-18C>T
ENST00000264005.9:c.749-18C>T ENSP00000264005.5:n.749-18C>T
ENST00000570369.5:c.156-422C>T
ENST00000570980.1:c.533-18C>T ENSP00000464651.1:n.533-18C>T
ENST00000573538.5:c.487-18C>T ENSP00000463220.1:n.487-18C>T
NM_000229.1:c.749-18C>T NP_000220.1:n.749-18C>T
NM_000229.2:c.749-18C>T MANE Select NP_000220.1:n.749-18C>T
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