Canonical Allele Identifier: CA4537296

Gene: CLCN1

Linked Data

• dbSNP Id: rs192224224
• ExAC: 7:143029780 C / G
• gnomAD v2: 7-143029780-C-G
• gnomAD v3: 7-143332687-C-G
• gnomAD v4: 7-143332687-C-G
• COSMIC: COSN8872050
• MyVariant Identifiers: chr7:g.143029780C>G (hg19) ; chr7:g.143332687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332687C>G , CM000669.2:g.143332687C>G	GRCh38
NC_000007.13:g.143029780C>G , CM000669.1:g.143029780C>G	GRCh37
NC_000007.12:g.142739902C>G	NCBI36
NG_009815.1:g.21562C>G
NG_009815.2:g.21562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-37C>G	ENSP00000498052.2:n.1252-37C>G
ENST00000343257.7:c.1252-37C>G MANE Select	ENSP00000339867.2:n.1252-37C>G
ENST00000432192.6:c.1076-37C>G
ENST00000343257.6:c.1252-37C>G	ENSP00000339867.2:n.1252-37C>G
NM_000083.2:c.1252-37C>G	NP_000074.2:n.1252-37C>G
NR_046453.1:n.1341+184C>G
XM_011515781.1:c.1276-37C>G	XP_011514083.1:n.1276-37C>G
XM_011515782.1:c.-3-37C>G	XP_011514084.1:n.-3-37C>G
XM_011515782.2:c.-3-37C>G	XP_011514084.1:n.-3-37C>G
XM_017011739.1:c.826-37C>G	XP_016867228.1:n.826-37C>G
XM_017011740.1:c.802-37C>G	XP_016867229.1:n.802-37C>G
NM_000083.3:c.1252-37C>G MANE Select	NP_000074.3:n.1252-37C>G
NR_046453.2:n.1356+184C>G