Canonical Allele Identifier: CA8121077

Gene: LCAT

Linked Data

• ClinVar Variation Id: 885595
• ClinVar RCV Id: RCV001117247
• dbSNP Id: rs202035096
• ExAC: 16:67976673 T / C
• gnomAD v2: 16-67976673-T-C
• gnomAD v3: 16-67942770-T-C
• gnomAD v4: 16-67942770-T-C
• MyVariant Identifiers: chr16:g.67976673T>C (hg19) ; chr16:g.67942770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942770T>C , CM000678.2:g.67942770T>C	GRCh38
NC_000016.9:g.67976673T>C , CM000678.1:g.67976673T>C	GRCh37
NC_000016.8:g.66534174T>C	NCBI36
NG_009778.1:g.6343A>G
NG_033098.1:g.30925A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.428-4A>G MANE Select	ENSP00000264005.5:n.428-4A>G
ENST00000264005.9:c.428-4A>G	ENSP00000264005.5:n.428-4A>G
ENST00000570369.5:c.155+91A>G
ENST00000570980.1:c.212-4A>G	ENSP00000464651.1:n.212-4A>G
ENST00000573538.5:c.71-4A>G	ENSP00000463220.1:n.71-4A>G
ENST00000573846.1:n.42-4A>G
ENST00000575277.1:n.206-4A>G
ENST00000575467.5:c.*123-4A>G	ENSP00000460653.1:n.*123-4A>G
NM_000229.1:c.428-4A>G	NP_000220.1:n.428-4A>G
NM_000229.2:c.428-4A>G MANE Select	NP_000220.1:n.428-4A>G