Canonical Allele Identifier: CA4537353

Gene: CLCN1

Linked Data

• dbSNP Id: rs778349479
• ExAC: 7:143036299 T / A
• gnomAD v2: 7-143036299-T-A
• gnomAD v4: 7-143339206-T-A
• MyVariant Identifiers: chr7:g.143036299T>A (hg19) ; chr7:g.143339206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339206T>A , CM000669.2:g.143339206T>A	GRCh38
NC_000007.13:g.143036299T>A , CM000669.1:g.143036299T>A	GRCh37
NC_000007.12:g.142746421T>A	NCBI36
NG_009815.1:g.28081T>A
NG_009815.2:g.28081T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-47T>A	ENSP00000498052.2:n.1402-47T>A
ENST00000343257.7:c.1402-47T>A MANE Select	ENSP00000339867.2:n.1402-47T>A
ENST00000432192.6:c.1226-47T>A
ENST00000343257.6:c.1402-47T>A	ENSP00000339867.2:n.1402-47T>A
NM_000083.2:c.1402-47T>A	NP_000074.2:n.1402-47T>A
NR_046453.1:n.1342-47T>A
XM_011515781.1:c.1426-47T>A	XP_011514083.1:n.1426-47T>A
XM_011515782.1:c.148-47T>A	XP_011514084.1:n.148-47T>A
XM_011515782.2:c.148-47T>A	XP_011514084.1:n.148-47T>A
XM_017011739.1:c.976-47T>A	XP_016867228.1:n.976-47T>A
XM_017011740.1:c.952-47T>A	XP_016867229.1:n.952-47T>A
NM_000083.3:c.1402-47T>A MANE Select	NP_000074.3:n.1402-47T>A
NR_046453.2:n.1357-47T>A