Canonical Allele Identifier: CA4537383

Gene: CLCN1

Linked Data

• dbSNP Id: rs780477428
• ExAC: 7:143036422 TCTGATGGGAAGCCTGG / T
• gnomAD v2: 7-143036422-TCTGATGGGAAGCCTGG-T
• gnomAD v4: 7-143339329-TCTGATGGGAAGCCTGG-T
• MyVariant Identifiers: chr7:g.143036423_143036438del (hg19) ; chr7:g.143339330_143339345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339330_143339345del , CM000669.2:g.143339330_143339345del	GRCh38
NC_000007.13:g.143036423_143036438del , CM000669.1:g.143036423_143036438del	GRCh37
NC_000007.12:g.142746545_142746560del	NCBI36
NG_009815.1:g.28205_28220del
NG_009815.2:g.28205_28220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1471+8_1471+23del	ENSP00000498052.2:n.1471+8_1471+23del
ENST00000343257.7:c.1471+8_1471+23del MANE Select	ENSP00000339867.2:n.1471+8_1471+23del
ENST00000432192.6:c.1295+8_1295+23del
ENST00000343257.6:c.1471+8_1471+23del	ENSP00000339867.2:n.1471+8_1471+23del
NM_000083.2:c.1471+8_1471+23del	NP_000074.2:n.1471+8_1471+23del
NR_046453.1:n.1411+8_1411+23del
XM_011515781.1:c.1495+8_1495+23del	XP_011514083.1:n.1495+8_1495+23del
XM_011515782.1:c.217+8_217+23del	XP_011514084.1:n.217+8_217+23del
XM_011515782.2:c.217+8_217+23del	XP_011514084.1:n.217+8_217+23del
XM_017011739.1:c.1045+8_1045+23del	XP_016867228.1:n.1045+8_1045+23del
XM_017011740.1:c.1021+8_1021+23del	XP_016867229.1:n.1021+8_1021+23del
NM_000083.3:c.1471+8_1471+23del MANE Select	NP_000074.3:n.1471+8_1471+23del
NR_046453.2:n.1426+8_1426+23del