Canonical Allele Identifier: CA1887736
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1468736
ClinVar RCV Id: RCV001993727
dbSNP Id: rs139606379
ExAC: 2:136555641 C / T
gnomAD v2: 2-136555641-C-T
gnomAD v3: 2-135798071-C-T
gnomAD v4: 2-135798071-C-T
COSMIC: COSM1641648
MyVariant Identifiers: chr2:g.136555641C>T (hg19) chr2:g.135798071C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798071C>T , CM000664.2:g.135798071C>T GRCh38
NC_000002.11:g.136555641C>T , CM000664.1:g.136555641C>T GRCh37
NC_000002.10:g.136272111C>T NCBI36
NG_008104.2:g.62099G>A , LRG_338:g.62099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4934G>A MANE Select ENSP00000264162.2:p.Arg1645Gln
ENST00000264162.6:c.4934G>A ENSP00000264162.2:p.Arg1645Gln
ENST00000452974.1:c.3027G>A ENSP00000391231.1:n.3027G>A
NM_002299.2:c.4934G>A , LRG_338t1:c.4934G>A NP_002290.2:p.Arg1645Gln
NM_002299.3:c.4934G>A NP_002290.2:p.Arg1645Gln
XM_017004088.2:c.4934G>A XP_016859577.1:p.Arg1645Gln
NM_002299.4:c.4934G>A MANE Select NP_002290.2:p.Arg1645Gln
Search 100 bp 5'
Search 100 bp 3'