Canonical Allele Identifier: CA345667854

Gene: SDCCAG8

Linked Data

• dbSNP Id: rs2148043407
• gnomAD v4: 1-243426521-G-T
• MyVariant Identifiers: chr1:g.243589823G>T (hg19) ; chr1:g.243426521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426521G>T , CM000663.2:g.243426521G>T	GRCh38
NC_000001.10:g.243589823G>T , CM000663.1:g.243589823G>T	GRCh37
NC_000001.9:g.241656446G>T	NCBI36
NG_027811.1:g.175517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1948G>T MANE Select	ENSP00000355499.3:p.Val650Phe
ENST00000366541.7:c.1948G>T	ENSP00000355499.3:p.Val650Phe
ENST00000435549.1:c.1051G>T	ENSP00000410200.1:p.Val351Phe
ENST00000463042.1:n.155G>T
NM_006642.3:c.1948G>T	NP_006633.1:p.Val650Phe
XM_005273013.3:c.1819G>T	XP_005273070.1:p.Val607Phe
XM_005273018.1:c.1525G>T	XP_005273075.1:p.Val509Phe
XM_005273021.3:c.1045G>T	XP_005273078.1:p.Val349Phe
XM_005273022.2:c.1027G>T	XP_005273079.1:p.Val343Phe
XM_006711727.2:c.1978G>T	XP_006711790.1:p.Val660Phe
XM_006711728.2:c.1849G>T	XP_006711791.1:p.Val617Phe
XM_006711729.2:c.1789G>T	XP_006711792.1:p.Val597Phe
XM_011544021.1:c.2074G>T	XP_011542323.1:p.Val692Phe
XM_011544022.1:c.2044G>T	XP_011542324.1:p.Val682Phe
XM_011544023.1:c.2074G>T	XP_011542325.1:p.Val692Phe
XM_011544024.1:c.2074G>T	XP_011542326.1:p.Val692Phe
XM_011544025.1:c.1885G>T	XP_011542327.1:p.Val629Phe
XM_011544026.1:c.1837G>T	XP_011542328.1:p.Val613Phe
XM_011544027.1:c.1660G>T	XP_011542329.1:p.Val554Phe
XM_011544028.1:c.1612G>T	XP_011542330.1:p.Val538Phe
XM_011544030.1:c.1003G>T	XP_011542332.1:p.Val335Phe
XR_949128.1:n.2098G>T
NM_001350246.1:c.1045G>T	NP_001337175.1:p.Val349Phe
NM_001350247.1:c.1045G>T	NP_001337176.1:p.Val349Phe
NM_001350248.1:c.2044G>T	NP_001337177.1:p.Val682Phe
NM_001350249.1:c.1654G>T	NP_001337178.1:p.Val552Phe
NM_001350251.1:c.1045G>T	NP_001337180.1:p.Val349Phe
NM_006642.4:c.1948G>T	NP_006633.1:p.Val650Phe
XM_005273013.5:c.1819G>T	XP_005273070.1:p.Val607Phe
XM_005273018.2:c.1525G>T	XP_005273075.1:p.Val509Phe
XM_005273022.4:c.1027G>T	XP_005273079.1:p.Val343Phe
XM_011544026.3:c.1837G>T	XP_011542328.1:p.Val613Phe
XM_011544028.3:c.1612G>T	XP_011542330.1:p.Val538Phe
XM_011544030.3:c.1003G>T	XP_011542332.1:p.Val335Phe
XM_017000104.2:c.1819G>T	XP_016855593.1:p.Val607Phe
XM_017000105.2:c.1711G>T	XP_016855594.1:p.Val571Phe
XM_024452537.1:c.1750G>T	XP_024308305.1:p.Val584Phe
XM_024452539.1:c.1750G>T	XP_024308307.1:p.Val584Phe
XM_024452540.1:c.1750G>T	XP_024308308.1:p.Val584Phe
XM_024452547.1:c.1654G>T	XP_024308315.1:p.Val552Phe
XM_024452548.1:c.1750G>T	XP_024308316.1:p.Val584Phe
XM_024452549.1:c.1417G>T	XP_024308317.1:p.Val473Phe
XR_002958955.1:n.1990G>T
XR_002958956.1:n.1990G>T
XR_002958965.1:n.1881G>T
NM_006642.5:c.1948G>T MANE Select	NP_006633.1:p.Val650Phe
NM_001350246.2:c.1045G>T	NP_001337175.1:p.Val349Phe
NM_001350247.2:c.1045G>T	NP_001337176.1:p.Val349Phe
NM_001350248.2:c.2044G>T	NP_001337177.1:p.Val682Phe
NM_001350249.2:c.1654G>T	NP_001337178.1:p.Val552Phe
NM_001350251.2:c.1045G>T	NP_001337180.1:p.Val349Phe