Canonical Allele Identifier: CA369643729

Gene: CLCN1

Linked Data

• dbSNP Id: rs1463906799
• gnomAD v2: 7-143029824-C-T
• MyVariant Identifiers: chr7:g.143029824C>T (hg19) ; chr7:g.143332731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332731C>T , CM000669.2:g.143332731C>T	GRCh38
NC_000007.13:g.143029824C>T , CM000669.1:g.143029824C>T	GRCh37
NC_000007.12:g.142739946C>T	NCBI36
NG_009815.1:g.21606C>T
NG_009815.2:g.21606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1259C>T	ENSP00000498052.2:p.Pro420Leu
ENST00000343257.7:c.1259C>T MANE Select	ENSP00000339867.2:p.Pro420Leu
ENST00000432192.6:c.1083C>T
ENST00000343257.6:c.1259C>T	ENSP00000339867.2:p.Pro420Leu
NM_000083.2:c.1259C>T	NP_000074.2:p.Pro420Leu
NR_046453.1:n.1341+228C>T
XM_011515781.1:c.1283C>T	XP_011514083.1:p.Pro428Leu
XM_011515782.1:c.5C>T	XP_011514084.1:p.Pro2Leu
XM_011515782.2:c.5C>T	XP_011514084.1:p.Pro2Leu
XM_017011739.1:c.833C>T	XP_016867228.1:p.Pro278Leu
XM_017011740.1:c.809C>T	XP_016867229.1:p.Pro270Leu
NM_000083.3:c.1259C>T MANE Select	NP_000074.3:p.Pro420Leu
NR_046453.2:n.1356+228C>T