Canonical Allele Identifier: CA369644404

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332868-A-G
• MyVariant Identifiers: chr7:g.143029961A>G (hg19) ; chr7:g.143332868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332868A>G , CM000669.2:g.143332868A>G	GRCh38
NC_000007.13:g.143029961A>G , CM000669.1:g.143029961A>G	GRCh37
NC_000007.12:g.142740083A>G	NCBI36
NG_009815.1:g.21743A>G
NG_009815.2:g.21743A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1396A>G	ENSP00000498052.2:p.Met466Val
ENST00000343257.7:c.1396A>G MANE Select	ENSP00000339867.2:p.Met466Val
ENST00000432192.6:c.1220A>G
ENST00000343257.6:c.1396A>G	ENSP00000339867.2:p.Met466Val
NM_000083.2:c.1396A>G	NP_000074.2:p.Met466Val
NR_046453.1:n.1341+365A>G
XM_011515781.1:c.1420A>G	XP_011514083.1:p.Met474Val
XM_011515782.1:c.142A>G	XP_011514084.1:p.Met48Val
XM_011515782.2:c.142A>G	XP_011514084.1:p.Met48Val
XM_017011739.1:c.970A>G	XP_016867228.1:p.Met324Val
XM_017011740.1:c.946A>G	XP_016867229.1:p.Met316Val
NM_000083.3:c.1396A>G MANE Select	NP_000074.3:p.Met466Val
NR_046453.2:n.1356+365A>G