Canonical Allele Identifier: CA3261015
Gene: ISL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373894
ClinVar RCV Id: RCV000497649
dbSNP Id: rs2303750
ExAC: 5:50685476 G / A
gnomAD v2: 5-50685476-G-A
gnomAD v3: 5-51389642-G-A
gnomAD v4: 5-51389642-G-A
MyVariant Identifiers: chr5:g.50685476G>A (hg19) chr5:g.51389642G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.51389642G>A , CM000667.2:g.51389642G>A GRCh38
NC_000005.9:g.50685476G>A , CM000667.1:g.50685476G>A GRCh37
NC_000005.8:g.50721233G>A NCBI36
NG_023040.1:g.11519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230658.12:c.479-4G>A MANE Select ENSP00000230658.7:n.479-4G>A
ENST00000230658.11:c.479-4G>A ENSP00000230658.7:n.479-4G>A
ENST00000505475.3:n.684-4G>A
ENST00000511384.1:c.479-4G>A ENSP00000422676.1:n.479-4G>A
NM_002202.2:c.479-4G>A NP_002193.2:n.479-4G>A
XM_011543380.1:c.287-4G>A XP_011541682.1:n.287-4G>A
XM_011543380.2:c.287-4G>A XP_011541682.1:n.287-4G>A
NM_002202.3:c.479-4G>A MANE Select NP_002193.2:n.479-4G>A
Search 100 bp 5'
Search 100 bp 3'