Canonical Allele Identifier: CA168255965

Gene: CLCN1

Linked Data

• dbSNP Id: rs2272258
• gnomAD v2: 7-143018750-A-G
• gnomAD v3: 7-143321657-A-G
• gnomAD v4: 7-143321657-A-G
• MyVariant Identifiers: chr7:g.143018750A>G (hg19) ; chr7:g.143321657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321657A>G , CM000669.2:g.143321657A>G	GRCh38
NC_000007.13:g.143018750A>G , CM000669.1:g.143018750A>G	GRCh37
NC_000007.12:g.142728872A>G	NCBI36
NG_009815.1:g.10532A>G
NG_009815.2:g.10532A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.563-58A>G	ENSP00000498052.2:n.563-58A>G
ENST00000343257.7:c.563-58A>G MANE Select	ENSP00000339867.2:n.563-58A>G
ENST00000432192.6:c.331-58A>G
ENST00000455478.6:c.17-58A>G	ENSP00000400027.2:n.17-58A>G
ENST00000650516.1:c.563-58A>G	ENSP00000498052.1:n.563-58A>G
ENST00000343257.6:c.563-58A>G	ENSP00000339867.2:n.563-58A>G
ENST00000432192.5:c.21-58A>G
ENST00000455478.5:c.21-58A>G
ENST00000495612.1:n.21-58A>G
NM_000083.2:c.563-58A>G	NP_000074.2:n.563-58A>G
NR_046453.1:n.650-58A>G
XM_011515781.1:c.563-58A>G	XP_011514083.1:n.563-58A>G
XM_017011739.1:c.270-58A>G	XP_016867228.1:n.270-58A>G
XM_017011740.1:c.270-58A>G	XP_016867229.1:n.270-58A>G
NM_000083.3:c.563-58A>G MANE Select	NP_000074.3:n.563-58A>G
NR_046453.2:n.665-58A>G