Canonical Allele Identifier: CA6703652
Gene: LIN7A HGNC NCBI
MIR618 HGNC NCBI
COSMIC:
COSN26727523 (not active)
MyVariant.info:
GRCh38 chr12:g.80935757A>C
GRCh37 chr12:g.81329536A>C
gnomAD v2:
12:81329536 A / C
gnomAD v3:
12:80935757 A / C
gnomAD v4:
chr12-80935757-A-C
Joint Max Group AF 0.90837541 (AMR)
Genomes Max Group AF 0.87656093 (AMR)
Exomes Max Group AF 0.91813613 (AMR)
dbSNP:
2682818
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80935757A>C , CM000674.2:g.80935757A>C GRCh38
NC_000012.11:g.81329536A>C , CM000674.1:g.81329536A>C GRCh37
NC_000012.10:g.79853667A>C NCBI36
NG_050580.1:g.7167T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000552864.6:c.82+1884T>G (LIN7A) MANE Select ENSP00000447488.1:n.82+1884T>G
ENST00000261203.7:c.82+1884T>G (LIN7A) ENSP00000261203.3:n.82+1884T>G
ENST00000549417.5:c.64+1884T>G (LIN7A) ENSP00000448975.1:n.64+1884T>G
ENST00000552864.5:c.82+1884T>G (LIN7A) ENSP00000447488.1:n.82+1884T>G
NM_004664.2:c.82+1884T>G (LIN7A) NP_004655.1:n.82+1884T>G
NR_030349.1:n.77T>G (MIR618)
XM_011538928.1:c.82+1884T>G (LIN7A) XP_011537230.1:n.82+1884T>G
NM_001324423.1:c.-13+1884T>G (LIN7A) NP_001311352.1:n.-13+1884T>G
NM_004664.3:c.82+1884T>G (LIN7A) NP_004655.1:n.82+1884T>G
NR_136887.1:n.275+1884T>G (LIN7A)
NR_136888.1:n.275+1884T>G (LIN7A)
XM_011538928.3:c.43+1884T>G (LIN7A) XP_011537230.2:n.43+1884T>G
XM_011539062.3:c.-779A>C XP_011537364.1:n.-779A>C
NM_001324423.2:c.-13+1884T>G (LIN7A) NP_001311352.1:n.-13+1884T>G
NR_136887.2:n.67+1884T>G (LIN7A)
NR_136888.2:n.67+1884T>G (LIN7A)
NM_004664.4:c.82+1884T>G (LIN7A) MANE Select NP_004655.1:n.82+1884T>G
NR_136888.3:n.294+1884T>G (LIN7A)
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