Canonical Allele Identifier: CA4537845
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs769675157
ExAC: 7:143049146 C / T
gnomAD v2: 7-143049146-C-T
gnomAD v3: 7-143352053-C-T
gnomAD v4: 7-143352053-C-T
MyVariant Identifiers: chr7:g.143049146C>T (hg19) chr7:g.143352053C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352053C>T , CM000669.2:g.143352053C>T GRCh38
NC_000007.13:g.143049146C>T , CM000669.1:g.143049146C>T GRCh37
NC_000007.12:g.142759268C>T NCBI36
NG_009815.1:g.40928C>T
NG_009815.2:g.40928C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*88C>T ENSP00000498052.2:n.*88C>T
ENST00000343257.7:c.*88C>T MANE Select ENSP00000339867.2:n.*88C>T
ENST00000343257.6:c.*88C>T ENSP00000339867.2:n.*88C>T
XM_011515781.1:c.*88C>T XP_011514083.1:n.*88C>T
XM_011515782.1:c.*88C>T XP_011514084.1:n.*88C>T
NM_000083.3:c.*88C>T MANE Select NP_000074.3:n.*88C>T
NR_046453.2:n.3010C>T
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