Canonical Allele Identifier: CA7365364
Gene: KLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380166
ClinVar RCV Id: RCV000429169
dbSNP Id: rs185675160
ExAC: 14:104029289 G / T
gnomAD v2: 14-104029289-G-T
gnomAD v3: 14-103562952-G-T
gnomAD v4: 14-103562952-G-T
MyVariant Identifiers: chr14:g.104029289G>T (hg19) chr14:g.103562952G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103562952G>T , CM000676.2:g.103562952G>T GRCh38
NC_000014.8:g.104029289G>T , CM000676.1:g.104029289G>T GRCh37
NC_000014.7:g.103099042G>T NCBI36
NG_041786.1:g.4996G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000557172.5:c.-2+968G>T ENSP00000450786.1:n.-2+968G>T
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