Canonical Allele Identifier: CA2685378899

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339449-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339449G>T , CM000669.2:g.143339449G>T	GRCh38
NC_000007.13:g.143036542G>T , CM000669.1:g.143036542G>T	GRCh37
NC_000007.12:g.142746664G>T	NCBI36
NG_009815.1:g.28324G>T
NG_009815.2:g.28324G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-62G>T	ENSP00000498052.2:n.1472-62G>T
ENST00000343257.7:c.1472-62G>T MANE Select	ENSP00000339867.2:n.1472-62G>T
ENST00000432192.6:c.1296-62G>T
ENST00000343257.6:c.1472-62G>T	ENSP00000339867.2:n.1472-62G>T
NM_000083.2:c.1472-62G>T	NP_000074.2:n.1472-62G>T
NR_046453.1:n.1412-62G>T
XM_011515781.1:c.1496-62G>T	XP_011514083.1:n.1496-62G>T
XM_011515782.1:c.218-62G>T	XP_011514084.1:n.218-62G>T
XM_011515782.2:c.218-62G>T	XP_011514084.1:n.218-62G>T
XM_017011739.1:c.1046-62G>T	XP_016867228.1:n.1046-62G>T
XM_017011740.1:c.1022-62G>T	XP_016867229.1:n.1022-62G>T
NM_000083.3:c.1472-62G>T MANE Select	NP_000074.3:n.1472-62G>T
NR_046453.2:n.1427-62G>T