Canonical Allele Identifier: CA2685382382

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332879-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332879G>C , CM000669.2:g.143332879G>C	GRCh38
NC_000007.13:g.143029972G>C , CM000669.1:g.143029972G>C	GRCh37
NC_000007.12:g.142740094G>C	NCBI36
NG_009815.1:g.21754G>C
NG_009815.2:g.21754G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1401+6G>C	ENSP00000498052.2:n.1401+6G>C
ENST00000343257.7:c.1401+6G>C MANE Select	ENSP00000339867.2:n.1401+6G>C
ENST00000432192.6:c.1225+6G>C
ENST00000343257.6:c.1401+6G>C	ENSP00000339867.2:n.1401+6G>C
NM_000083.2:c.1401+6G>C	NP_000074.2:n.1401+6G>C
NR_046453.1:n.1341+376G>C
XM_011515781.1:c.1425+6G>C	XP_011514083.1:n.1425+6G>C
XM_011515782.1:c.147+6G>C	XP_011514084.1:n.147+6G>C
XM_011515782.2:c.147+6G>C	XP_011514084.1:n.147+6G>C
XM_017011739.1:c.975+6G>C	XP_016867228.1:n.975+6G>C
XM_017011740.1:c.951+6G>C	XP_016867229.1:n.951+6G>C
NM_000083.3:c.1401+6G>C MANE Select	NP_000074.3:n.1401+6G>C
NR_046453.2:n.1356+376G>C