Canonical Allele Identifier: CA777682925

Gene: CABLES1

Linked Data

• dbSNP Id: rs11082304
• gnomAD v3: 18-23141009-G-C
• gnomAD v4: 18-23141009-G-C
• MyVariant Identifiers: chr18:g.20720973G>C (hg19) ; chr18:g.23141009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23141009G>C , CM000680.2:g.23141009G>C	GRCh38
NC_000018.9:g.20720973G>C , CM000680.1:g.20720973G>C	GRCh37
NC_000018.8:g.18974971G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256925.12:c.845+4402G>C MANE Select	ENSP00000256925.7:n.845+4402G>C
ENST00000256925.11:c.845+4402G>C	ENSP00000256925.7:n.845+4402G>C
ENST00000400473.6:c.-137+6339G>C	ENSP00000383321.2:n.-137+6339G>C
ENST00000578052.1:n.59+4402G>C
ENST00000579963.5:c.-137+6358G>C	ENSP00000464435.1:n.-137+6358G>C
ENST00000580153.5:c.-137+4402G>C	ENSP00000461994.1:n.-137+4402G>C
ENST00000580644.5:n.115+4402G>C
ENST00000582882.5:c.184+4402G>C
ENST00000583220.5:n.149+4402G>C
NM_001100619.2:c.845+4402G>C	NP_001094089.1:n.845+4402G>C
NM_001256438.1:c.-137+6339G>C	NP_001243367.1:n.-137+6339G>C
NR_023359.1:n.88+6358G>C
NR_023359.2:n.88+6358G>C
NM_001100619.3:c.845+4402G>C MANE Select	NP_001094089.1:n.845+4402G>C