Canonical Allele Identifier: CA369644407

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029962T>A (hg19) ; chr7:g.143332869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332869T>A , CM000669.2:g.143332869T>A	GRCh38
NC_000007.13:g.143029962T>A , CM000669.1:g.143029962T>A	GRCh37
NC_000007.12:g.142740084T>A	NCBI36
NG_009815.1:g.21744T>A
NG_009815.2:g.21744T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1397T>A	ENSP00000498052.2:p.Met466Lys
ENST00000343257.7:c.1397T>A MANE Select	ENSP00000339867.2:p.Met466Lys
ENST00000432192.6:c.1221T>A
ENST00000343257.6:c.1397T>A	ENSP00000339867.2:p.Met466Lys
NM_000083.2:c.1397T>A	NP_000074.2:p.Met466Lys
NR_046453.1:n.1341+366T>A
XM_011515781.1:c.1421T>A	XP_011514083.1:p.Met474Lys
XM_011515782.1:c.143T>A	XP_011514084.1:p.Met48Lys
XM_011515782.2:c.143T>A	XP_011514084.1:p.Met48Lys
XM_017011739.1:c.971T>A	XP_016867228.1:p.Met324Lys
XM_017011740.1:c.947T>A	XP_016867229.1:p.Met316Lys
NM_000083.3:c.1397T>A MANE Select	NP_000074.3:p.Met466Lys
NR_046453.2:n.1356+366T>A