Canonical Allele Identifier: CA2581257746

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23370593G>T , CM000678.2:g.23370593G>T	GRCh38
NC_000016.9:g.23381914G>T , CM000678.1:g.23381914G>T	GRCh37
NC_000016.8:g.23289415G>T	NCBI36
NG_011908.1:g.73324G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.881-706G>T MANE Select	NP_000327.2:n.881-706G>T
ENST00000343070.7:c.881-706G>T MANE Select	ENSP00000345751.2:n.881-706G>T
NM_000336.2:c.881-706G>T	NP_000327.2:n.881-706G>T
ENST00000307331.9:c.1016-706G>T	ENSP00000302874.5:n.1016-706G>T
ENST00000343070.6:c.881-706G>T	ENSP00000345751.2:n.881-706G>T
ENST00000564275.5:c.777-706G>T	ENSP00000457754.1:n.777-706G>T
ENST00000566441.2:c.178-706G>T
ENST00000568085.5:c.881-706G>T	ENSP00000455673.1:n.881-706G>T
ENST00000568923.5:c.800-706G>T	ENSP00000456309.1:n.800-706G>T
XM_011545913.1:c.914-706G>T	XP_011544215.1:n.914-706G>T
XM_011545913.2:c.914-706G>T	XP_011544215.1:n.914-706G>T
XM_011545914.1:c.899-706G>T	XP_011544216.1:n.899-706G>T
XM_017023525.1:c.938-706G>T	XP_016879014.1:n.938-706G>T
XM_017023526.1:c.938-706G>T	XP_016879015.1:n.938-706G>T