Canonical Allele Identifier: CA369653129

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350571-C-T
• MyVariant Identifiers: chr7:g.143047664C>T (hg19) ; chr7:g.143350571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350571C>T , CM000669.2:g.143350571C>T	GRCh38
NC_000007.13:g.143047664C>T , CM000669.1:g.143047664C>T	GRCh37
NC_000007.12:g.142757786C>T	NCBI36
NG_009815.1:g.39446C>T
NG_009815.2:g.39446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2512C>T	ENSP00000498052.2:p.His838Tyr
ENST00000343257.7:c.2512C>T MANE Select	ENSP00000339867.2:p.His838Tyr
ENST00000432192.6:c.2336C>T
ENST00000343257.6:c.2512C>T	ENSP00000339867.2:p.His838Tyr
NM_000083.2:c.2512C>T	NP_000074.2:p.His838Tyr
NR_046453.1:n.2452C>T
XM_011515781.1:c.2536C>T	XP_011514083.1:p.His846Tyr
XM_011515782.1:c.1258C>T	XP_011514084.1:p.His420Tyr
XM_011515782.2:c.1258C>T	XP_011514084.1:p.His420Tyr
XM_017011739.1:c.2086C>T	XP_016867228.1:p.His696Tyr
XM_017011740.1:c.2062C>T	XP_016867229.1:p.His688Tyr
NM_000083.3:c.2512C>T MANE Select	NP_000074.3:p.His838Tyr
NR_046453.2:n.2467C>T