Canonical Allele Identifier: CA3261076

Gene: ISL1

Linked Data

• ClinVar Variation Id: 714089
• ClinVar RCV Id: RCV000886342 ; RCV003968052
• dbSNP Id: rs202190389
• ExAC: 5:50687098 C / T
• gnomAD v2: 5-50687098-C-T
• gnomAD v3: 5-51391264-C-T
• gnomAD v4: 5-51391264-C-T
• MyVariant Identifiers: chr5:g.50687098C>T (hg19) ; chr5:g.51391264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.51391264C>T , CM000667.2:g.51391264C>T	GRCh38
NC_000005.9:g.50687098C>T , CM000667.1:g.50687098C>T	GRCh37
NC_000005.8:g.50722855C>T	NCBI36
NG_023040.1:g.13141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230658.12:c.766-10C>T MANE Select	ENSP00000230658.7:n.766-10C>T
ENST00000230658.11:c.766-10C>T	ENSP00000230658.7:n.766-10C>T
ENST00000505475.3:n.971-10C>T
ENST00000511384.1:c.766-79C>T	ENSP00000422676.1:n.766-79C>T
NM_002202.2:c.766-10C>T	NP_002193.2:n.766-10C>T
XM_011543380.1:c.574-10C>T	XP_011541682.1:n.574-10C>T
XM_011543380.2:c.574-10C>T	XP_011541682.1:n.574-10C>T
NM_002202.3:c.766-10C>T MANE Select	NP_002193.2:n.766-10C>T