Canonical Allele Identifier: CA578445482

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2927465
• ClinVar RCV Id: RCV003784095
• dbSNP Id: rs1189132272
• gnomAD v2: 7-143029810-C-T
• gnomAD v4: 7-143332717-C-T
• MyVariant Identifiers: chr7:g.143029810C>T (hg19) ; chr7:g.143332717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332717C>T , CM000669.2:g.143332717C>T	GRCh38
NC_000007.13:g.143029810C>T , CM000669.1:g.143029810C>T	GRCh37
NC_000007.12:g.142739932C>T	NCBI36
NG_009815.1:g.21592C>T
NG_009815.2:g.21592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-7C>T	ENSP00000498052.2:n.1252-7C>T
ENST00000343257.7:c.1252-7C>T MANE Select	ENSP00000339867.2:n.1252-7C>T
ENST00000432192.6:c.1076-7C>T
ENST00000343257.6:c.1252-7C>T	ENSP00000339867.2:n.1252-7C>T
NM_000083.2:c.1252-7C>T	NP_000074.2:n.1252-7C>T
NR_046453.1:n.1341+214C>T
XM_011515781.1:c.1276-7C>T	XP_011514083.1:n.1276-7C>T
XM_011515782.1:c.-3-7C>T	XP_011514084.1:n.-3-7C>T
XM_011515782.2:c.-3-7C>T	XP_011514084.1:n.-3-7C>T
XM_017011739.1:c.826-7C>T	XP_016867228.1:n.826-7C>T
XM_017011740.1:c.802-7C>T	XP_016867229.1:n.802-7C>T
NM_000083.3:c.1252-7C>T MANE Select	NP_000074.3:n.1252-7C>T
NR_046453.2:n.1356+214C>T