Canonical Allele Identifier: CA1887547

Gene: LCT

Linked Data

• ClinVar Variation Id: 331162
• ClinVar RCV Id: RCV000326698 ; RCV000360630 ; RCV000955964 ; RCV003972396
• dbSNP Id: rs114828879
• ExAC: 2:136545910 G / T
• gnomAD v2: 2-136545910-G-T
• gnomAD v3: 2-135788340-G-T
• gnomAD v4: 2-135788340-G-T
• MyVariant Identifiers: chr2:g.136545910G>T (hg19) ; chr2:g.135788340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135788340G>T , CM000664.2:g.135788340G>T	GRCh38
NC_000002.11:g.136545910G>T , CM000664.1:g.136545910G>T	GRCh37
NC_000002.10:g.136262380G>T	NCBI36
NG_008104.2:g.71830C>A , LRG_338:g.71830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5768C>A MANE Select	ENSP00000264162.2:p.Pro1923Gln
ENST00000264162.6:c.5768C>A	ENSP00000264162.2:p.Pro1923Gln
NM_002299.2:c.5768C>A , LRG_338t1:c.5768C>A	NP_002290.2:p.Pro1923Gln
NM_002299.3:c.5768C>A	NP_002290.2:p.Pro1923Gln
NM_002299.4:c.5768C>A MANE Select	NP_002290.2:p.Pro1923Gln