Canonical Allele Identifier: CA369683986

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018565C>T (hg19) ; chr7:g.143321472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321472C>T , CM000669.2:g.143321472C>T	GRCh38
NC_000007.13:g.143018565C>T , CM000669.1:g.143018565C>T	GRCh37
NC_000007.12:g.142728687C>T	NCBI36
NG_009815.1:g.10347C>T
NG_009815.2:g.10347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.541C>T	ENSP00000498052.2:p.Leu181Phe
ENST00000343257.7:c.541C>T MANE Select	ENSP00000339867.2:p.Leu181Phe
ENST00000432192.6:c.309C>T
ENST00000650516.1:c.541C>T	ENSP00000498052.1:p.Leu181Phe
ENST00000343257.6:c.541C>T	ENSP00000339867.2:p.Leu181Phe
NM_000083.2:c.541C>T	NP_000074.2:p.Leu181Phe
NR_046453.1:n.628C>T
XM_011515781.1:c.541C>T	XP_011514083.1:p.Leu181Phe
XM_017011739.1:c.248C>T	XP_016867228.1:p.Pro83Leu
XM_017011740.1:c.248C>T	XP_016867229.1:p.Pro83Leu
NM_000083.3:c.541C>T MANE Select	NP_000074.3:p.Leu181Phe
NR_046453.2:n.643C>T