Canonical Allele Identifier: CA7960615

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380581A>C , CM000678.2:g.23380581A>C	GRCh38
NC_000016.9:g.23391902A>C , CM000678.1:g.23391902A>C	GRCh37
NC_000016.8:g.23299403A>C	NCBI36
NG_011908.1:g.83312A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1703A>C MANE Select	NP_000327.2:p.Gln568Pro
ENST00000343070.7:c.1703A>C MANE Select	ENSP00000345751.2:p.Gln568Pro
NM_000336.2:c.1703A>C	NP_000327.2:p.Gln568Pro
ENST00000307331.9:c.1838A>C	ENSP00000302874.5:p.Gln613Pro
ENST00000343070.6:c.1703A>C	ENSP00000345751.2:p.Gln568Pro
ENST00000564275.5:c.*708A>C	ENSP00000457754.1:n.*708A>C
ENST00000568085.5:c.1595A>C	ENSP00000455673.1:p.Gln532Pro
ENST00000568923.5:c.1622A>C	ENSP00000456309.1:p.Gln541Pro
XM_011545913.1:c.1736A>C	XP_011544215.1:p.Gln579Pro
XM_011545913.2:c.1736A>C	XP_011544215.1:p.Gln579Pro
XM_011545914.1:c.1721A>C	XP_011544216.1:p.Gln574Pro
XM_017023525.1:c.1760A>C	XP_016879014.1:p.Gln587Pro
XM_017023526.1:c.1652A>C	XP_016879015.1:p.Gln551Pro