Canonical Allele Identifier: CA30604099

Gene: LCE1C

Linked Data

• dbSNP Id: rs187791204
• gnomAD v3: 1-152805958-A-G
• gnomAD v4: 1-152805958-A-G
• MyVariant Identifiers: chr1:g.152778434A>G (hg19) ; chr1:g.152805958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152805958A>G , CM000663.2:g.152805958A>G	GRCh38
NC_000001.10:g.152778434A>G , CM000663.1:g.152778434A>G	GRCh37
NC_000001.9:g.151045058A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607093.2:c.-20-460T>C MANE Select	ENSP00000475270.1:n.-20-460T>C
ENST00000606576.1:c.-20-460T>C	ENSP00000476034.1:n.-20-460T>C
NM_001276331.1:c.-20-460T>C	NP_001263260.1:n.-20-460T>C
NM_178351.3:c.-20-460T>C	NP_848128.1:n.-20-460T>C
NM_001276331.2:c.-20-460T>C	NP_001263260.1:n.-20-460T>C
NM_178351.4:c.-20-460T>C MANE Select	NP_848128.1:n.-20-460T>C