Canonical Allele Identifier: CA369653574

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048760C>A (hg19) ; chr7:g.143351667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351667C>A , CM000669.2:g.143351667C>A	GRCh38
NC_000007.13:g.143048760C>A , CM000669.1:g.143048760C>A	GRCh37
NC_000007.12:g.142758882C>A	NCBI36
NG_009815.1:g.40542C>A
NG_009815.2:g.40542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2669C>A	ENSP00000498052.2:p.Thr890Lys
ENST00000343257.7:c.2669C>A MANE Select	ENSP00000339867.2:p.Thr890Lys
ENST00000432192.6:c.2493C>A
ENST00000343257.6:c.2669C>A	ENSP00000339867.2:p.Thr890Lys
NM_000083.2:c.2669C>A	NP_000074.2:p.Thr890Lys
NR_046453.1:n.2609C>A
XM_011515781.1:c.2693C>A	XP_011514083.1:p.Thr898Lys
XM_011515782.1:c.1415C>A	XP_011514084.1:p.Thr472Lys
XM_011515782.2:c.1415C>A	XP_011514084.1:p.Thr472Lys
XM_017011739.1:c.2243C>A	XP_016867228.1:p.Thr748Lys
XM_017011740.1:c.2219C>A	XP_016867229.1:p.Thr740Lys
NM_000083.3:c.2669C>A MANE Select	NP_000074.3:p.Thr890Lys
NR_046453.2:n.2624C>A