Canonical Allele Identifier: CA4537355

Gene: CLCN1

Linked Data

• dbSNP Id: rs771270326
• ExAC: 7:143036302 T / G
• gnomAD v2: 7-143036302-T-G
• gnomAD v4: 7-143339209-T-G
• MyVariant Identifiers: chr7:g.143036302T>G (hg19) ; chr7:g.143339209T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339209T>G , CM000669.2:g.143339209T>G	GRCh38
NC_000007.13:g.143036302T>G , CM000669.1:g.143036302T>G	GRCh37
NC_000007.12:g.142746424T>G	NCBI36
NG_009815.1:g.28084T>G
NG_009815.2:g.28084T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1402-44T>G	ENSP00000498052.2:n.1402-44T>G
ENST00000343257.7:c.1402-44T>G MANE Select	ENSP00000339867.2:n.1402-44T>G
ENST00000432192.6:c.1226-44T>G
ENST00000343257.6:c.1402-44T>G	ENSP00000339867.2:n.1402-44T>G
NM_000083.2:c.1402-44T>G	NP_000074.2:n.1402-44T>G
NR_046453.1:n.1342-44T>G
XM_011515781.1:c.1426-44T>G	XP_011514083.1:n.1426-44T>G
XM_011515782.1:c.148-44T>G	XP_011514084.1:n.148-44T>G
XM_011515782.2:c.148-44T>G	XP_011514084.1:n.148-44T>G
XM_017011739.1:c.976-44T>G	XP_016867228.1:n.976-44T>G
XM_017011740.1:c.952-44T>G	XP_016867229.1:n.952-44T>G
NM_000083.3:c.1402-44T>G MANE Select	NP_000074.3:n.1402-44T>G
NR_046453.2:n.1357-44T>G