Canonical Allele Identifier: CA2685381885

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332719-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332719C>T , CM000669.2:g.143332719C>T	GRCh38
NC_000007.13:g.143029812C>T , CM000669.1:g.143029812C>T	GRCh37
NC_000007.12:g.142739934C>T	NCBI36
NG_009815.1:g.21594C>T
NG_009815.2:g.21594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-5C>T	ENSP00000498052.2:n.1252-5C>T
ENST00000343257.7:c.1252-5C>T MANE Select	ENSP00000339867.2:n.1252-5C>T
ENST00000432192.6:c.1076-5C>T
ENST00000343257.6:c.1252-5C>T	ENSP00000339867.2:n.1252-5C>T
NM_000083.2:c.1252-5C>T	NP_000074.2:n.1252-5C>T
NR_046453.1:n.1341+216C>T
XM_011515781.1:c.1276-5C>T	XP_011514083.1:n.1276-5C>T
XM_011515782.1:c.-3-5C>T	XP_011514084.1:n.-3-5C>T
XM_011515782.2:c.-3-5C>T	XP_011514084.1:n.-3-5C>T
XM_017011739.1:c.826-5C>T	XP_016867228.1:n.826-5C>T
XM_017011740.1:c.802-5C>T	XP_016867229.1:n.802-5C>T
NM_000083.3:c.1252-5C>T MANE Select	NP_000074.3:n.1252-5C>T
NR_046453.2:n.1356+216C>T