Canonical Allele Identifier: CA1887767
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1519067
ClinVar RCV Id: RCV002024330
dbSNP Id: rs758746759
ExAC: 2:136558177 C / A
gnomAD v2: 2-136558177-C-A
gnomAD v3: 2-135800607-C-A
gnomAD v4: 2-135800607-C-A
MyVariant Identifiers: chr2:g.136558177C>A (hg19) chr2:g.135800607C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800607C>A , CM000664.2:g.135800607C>A GRCh38
NC_000002.11:g.136558177C>A , CM000664.1:g.136558177C>A GRCh37
NC_000002.10:g.136274647C>A NCBI36
NG_008104.2:g.59563G>T , LRG_338:g.59563G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4866G>T MANE Select ENSP00000264162.2:p.Gln1622His
ENST00000264162.6:c.4866G>T ENSP00000264162.2:p.Gln1622His
ENST00000452974.1:c.2960-2469G>T ENSP00000391231.1:n.2960-2469G>T
NM_002299.2:c.4866G>T , LRG_338t1:c.4866G>T NP_002290.2:p.Gln1622His
NM_002299.3:c.4866G>T NP_002290.2:p.Gln1622His
XM_017004088.2:c.4866G>T XP_016859577.1:p.Gln1622His
NM_002299.4:c.4866G>T MANE Select NP_002290.2:p.Gln1622His
Search 100 bp 5'
Search 100 bp 3'