Canonical Allele Identifier: CA4537288
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143332514G>T
GRCh37 chr7:g.143029607G>T
gnomAD v2:
7:143029607 G / T
gnomAD v3:
7:143332514 G / T
gnomAD v4:
chr7-143332514-G-T
Joint Max Group AF 0.00004382 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.00004096 (AFR)
ClinVar RCV:
RCV000356921
RCV003766064
ClinVar Variation:
359108
dbSNP:
780748786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332514G>T , CM000669.2:g.143332514G>T GRCh38
NC_000007.13:g.143029607G>T , CM000669.1:g.143029607G>T GRCh37
NC_000007.12:g.142739729G>T NCBI36
NG_009815.1:g.21389G>T
NG_009815.2:g.21389G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1251+11G>T ENSP00000498052.2:n.1251+11G>T
ENST00000343257.7:c.1251+11G>T MANE Select ENSP00000339867.2:n.1251+11G>T
ENST00000432192.6:c.1075+11G>T
ENST00000343257.6:c.1251+11G>T ENSP00000339867.2:n.1251+11G>T
NM_000083.2:c.1251+11G>T NP_000074.2:n.1251+11G>T
NR_046453.1:n.1341+11G>T
XM_011515781.1:c.1262G>T XP_011514083.1:p.Trp421Leu
XM_011515782.1:c.-3-210G>T XP_011514084.1:n.-3-210G>T
XM_011515782.2:c.-3-210G>T XP_011514084.1:n.-3-210G>T
XM_017011739.1:c.812G>T XP_016867228.1:p.Trp271Leu
XM_017011740.1:c.801+11G>T XP_016867229.1:n.801+11G>T
NM_000083.3:c.1251+11G>T MANE Select NP_000074.3:n.1251+11G>T
NR_046453.2:n.1356+11G>T
Search 100 bp 5'
Search 100 bp 3'