Canonical Allele Identifier: CA10745607
Gene: LAMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.183127499G>A
GRCh37 chr1:g.183096634G>A
gnomAD v2:
1:183096634 G / A
gnomAD v3:
1:183127499 G / A
gnomAD v4:
chr1-183127499-G-A
Joint Max Group AF 0.65426438 (AMR)
Genomes Max Group AF 0.63218565 (SAS)
Exomes Max Group AF 0.67026564 (AMR)
ClinVar RCV:
RCV001638673
ClinVar Variation:
1238270
dbSNP:
1413390
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183127499G>A , CM000663.2:g.183127499G>A GRCh38
NC_000001.10:g.183096634G>A , CM000663.1:g.183096634G>A GRCh37
NC_000001.9:g.181363257G>A NCBI36
NG_011463.1:g.109040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258341.5:c.3123+95G>A MANE Select ENSP00000258341.3:n.3123+95G>A
ENST00000258341.4:c.3123+95G>A ENSP00000258341.3:n.3123+95G>A
ENST00000466964.1:n.685+95G>A
NM_002293.3:c.3123+95G>A NP_002284.3:n.3123+95G>A
NM_002293.4:c.3123+95G>A MANE Select NP_002284.3:n.3123+95G>A
Search 100 bp 5'
Search 100 bp 3'