Canonical Allele Identifier: CA1887541

Gene: LCT

Linked Data

• ClinVar Variation Id: 331160
• ClinVar RCV Id: RCV000309257 ; RCV000404521
• dbSNP Id: rs200994158
• ExAC: 2:136545884 T / G
• gnomAD v2: 2-136545884-T-G
• gnomAD v3: 2-135788314-T-G
• gnomAD v4: 2-135788314-T-G
• MyVariant Identifiers: chr2:g.136545884T>G (hg19) ; chr2:g.135788314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135788314T>G , CM000664.2:g.135788314T>G	GRCh38
NC_000002.11:g.136545884T>G , CM000664.1:g.136545884T>G	GRCh37
NC_000002.10:g.136262354T>G	NCBI36
NG_008104.2:g.71856A>C , LRG_338:g.71856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.*10A>C MANE Select	ENSP00000264162.2:n.*10A>C
ENST00000264162.6:c.*10A>C	ENSP00000264162.2:n.*10A>C
NM_002299.2:c.*10A>C , LRG_338t1:c.*10A>C	NP_002290.2:n.*10A>C
NM_002299.3:c.*10A>C	NP_002290.2:n.*10A>C
NM_002299.4:c.*10A>C MANE Select	NP_002290.2:n.*10A>C