Canonical Allele Identifier: CA369654056

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351876-C-G
• MyVariant Identifiers: chr7:g.143048969C>G (hg19) ; chr7:g.143351876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351876C>G , CM000669.2:g.143351876C>G	GRCh38
NC_000007.13:g.143048969C>G , CM000669.1:g.143048969C>G	GRCh37
NC_000007.12:g.142759091C>G	NCBI36
NG_009815.1:g.40751C>G
NG_009815.2:g.40751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2878C>G	ENSP00000498052.2:p.Pro960Ala
ENST00000343257.7:c.2878C>G MANE Select	ENSP00000339867.2:p.Pro960Ala
ENST00000343257.6:c.2878C>G	ENSP00000339867.2:p.Pro960Ala
NM_000083.2:c.2878C>G	NP_000074.2:p.Pro960Ala
NR_046453.1:n.2818C>G
XM_011515781.1:c.2902C>G	XP_011514083.1:p.Pro968Ala
XM_011515782.1:c.1624C>G	XP_011514084.1:p.Pro542Ala
XM_011515782.2:c.1624C>G	XP_011514084.1:p.Pro542Ala
XM_017011739.1:c.2452C>G	XP_016867228.1:p.Pro818Ala
XM_017011740.1:c.2428C>G	XP_016867229.1:p.Pro810Ala
NM_000083.3:c.2878C>G MANE Select	NP_000074.3:p.Pro960Ala
NR_046453.2:n.2833C>G