Canonical Allele Identifier: CA4537300

Gene: CLCN1

Linked Data

• dbSNP Id: rs757956280
• ExAC: 7:143029786 A / AACCC
• gnomAD v2: 7-143029786-A-AACCC
• gnomAD v3: 7-143332693-A-AACCC
• gnomAD v4: 7-143332693-A-AACCC
• MyVariant Identifiers: chr7:g.143029786_143029787insACCC (hg19) ; chr7:g.143332693_143332694insACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332698_143332701dup , CM000669.2:g.143332698_143332701dup	GRCh38
NC_000007.13:g.143029791_143029794dup , CM000669.1:g.143029791_143029794dup	GRCh37
NC_000007.12:g.142739913_142739916dup	NCBI36
NG_009815.1:g.21573_21576dup
NG_009815.2:g.21573_21576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-26_1252-23dup	ENSP00000498052.2:n.1252-26_1252-23dup
ENST00000343257.7:c.1252-26_1252-23dup MANE Select	ENSP00000339867.2:n.1252-26_1252-23dup
ENST00000432192.6:c.1076-26_1076-23dup
ENST00000343257.6:c.1252-26_1252-23dup	ENSP00000339867.2:n.1252-26_1252-23dup
NM_000083.2:c.1252-26_1252-23dup	NP_000074.2:n.1252-26_1252-23dup
NR_046453.1:n.1341+195_1341+198dup
XM_011515781.1:c.1276-26_1276-23dup	XP_011514083.1:n.1276-26_1276-23dup
XM_011515782.1:c.-3-26_-3-23dup	XP_011514084.1:n.-3-26_-3-23dup
XM_011515782.2:c.-3-26_-3-23dup	XP_011514084.1:n.-3-26_-3-23dup
XM_017011739.1:c.826-26_826-23dup	XP_016867228.1:n.826-26_826-23dup
XM_017011740.1:c.802-26_802-23dup	XP_016867229.1:n.802-26_802-23dup
NM_000083.3:c.1252-26_1252-23dup MANE Select	NP_000074.3:n.1252-26_1252-23dup
NR_046453.2:n.1356+195_1356+198dup