Canonical Allele Identifier: CA8121180
Gene: LCAT HGNC NCBI
SLC12A4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.67944067G>A
GRCh37 chr16:g.67977970G>A
Revel Score:
ENST00000264005 (MANE Select) 0.274
gnomAD v2:
16:67977970 G / A
gnomAD v3:
16:67944067 G / A
gnomAD v4:
chr16-67944067-G-A
Joint Max Group AF 0.00267281 (MID)
Genomes Max Group AF 0.00016881 (SAS)
Exomes Max Group AF 0.00248439 (MID)
ClinVar RCV:
RCV002033242
RCV002468342
ClinVar Variation:
1348002
dbSNP:
560140762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67944067G>A , CM000678.2:g.67944067G>A GRCh38
NC_000016.9:g.67977970G>A , CM000678.1:g.67977970G>A GRCh37
NC_000016.8:g.66535471G>A NCBI36
NG_009778.1:g.5046C>T
NG_033098.1:g.29628C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.35C>T (LCAT) MANE Select ENSP00000264005.5:p.Thr12Met
ENST00000316341.8:c.*773C>T (SLC12A4) MANE Select ENSP00000318557.3:n.*773C>T
ENST00000264005.9:c.35C>T (LCAT) ENSP00000264005.5:p.Thr12Met
ENST00000316341.7:c.*773C>T (SLC12A4) ENSP00000318557.3:n.*773C>T
ENST00000422611.6:c.*773C>T (SLC12A4) ENSP00000395983.2:n.*773C>T
ENST00000575467.5:c.35C>T (LCAT) ENSP00000460653.1:p.Thr12Met
NM_000229.1:c.35C>T (LCAT) NP_000220.1:p.Thr12Met
NM_001145961.1:c.*773C>T (SLC12A4) NP_001139433.1:n.*773C>T
NM_001145962.1:c.*773C>T (SLC12A4) NP_001139434.1:n.*773C>T
NM_001145963.1:c.*773C>T (SLC12A4) NP_001139435.1:n.*773C>T
NM_001145964.1:c.*773C>T (SLC12A4) NP_001139436.1:n.*773C>T
NM_005072.4:c.*773C>T (SLC12A4) NP_005063.1:n.*773C>T
NM_005072.5:c.*773C>T (SLC12A4) MANE Select NP_005063.1:n.*773C>T
NM_000229.2:c.35C>T (LCAT) MANE Select NP_000220.1:p.Thr12Met
NM_001145961.2:c.*773C>T (SLC12A4) NP_001139433.1:n.*773C>T
NM_001145963.2:c.*773C>T (SLC12A4) NP_001139435.1:n.*773C>T
NM_001145964.2:c.*773C>T (SLC12A4) NP_001139436.1:n.*773C>T
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