Canonical Allele Identifier: CA2579050811

Gene: CLCN1

Genomic Alleles

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

Transcript Alleles

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