Canonical Allele Identifier: CA8770009

Gene: ITGB4 GALK1

Linked Data

• ClinVar Variation Id: 2175587
• ClinVar RCV Id: RCV002579341
• dbSNP Id: rs187296783
• ExAC: 17:73748559 G / A
• gnomAD v2: 17-73748559-G-A
• gnomAD v4: 17-75752478-G-A
• COSMIC: COSM4069673 ; COSM4069674
• MyVariant Identifiers: chr17:g.73748559G>A (hg19) ; chr17:g.75752478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75752478G>A , CM000679.2:g.75752478G>A	GRCh38
NC_000017.10:g.73748559G>A , CM000679.1:g.73748559G>A	GRCh37
NC_000017.9:g.71260154G>A	NCBI36
NG_007372.1:g.36044G>A
NG_008079.2:g.17722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.4009G>A (ITGB4)	ENSP00000400217.2:p.Ala1337Thr
ENST00000200181.8:c.4009G>A (ITGB4) MANE Select	ENSP00000200181.3:p.Ala1337Thr
ENST00000200181.7:c.4009G>A (ITGB4)	ENSP00000200181.3:p.Ala1337Thr
ENST00000225614.6:c.*23-741C>T (GALK1)	ENSP00000225614.1:n.*23-741C>T
ENST00000449880.6:c.4009G>A (ITGB4)	ENSP00000400217.2:p.Ala1337Thr
ENST00000450894.7:c.4009G>A (ITGB4)	ENSP00000405536.3:p.Ala1337Thr
ENST00000579662.5:c.4009G>A (ITGB4)	ENSP00000463651.1:p.Ala1337Thr
ENST00000582629.1:c.266-5148G>A (ITGB4)	ENSP00000463788.1:n.266-5148G>A
ENST00000583327.2:n.252G>A (ITGB4)
ENST00000589643.1:n.255-741C>T (GALK1)
NM_000213.3:c.4009G>A (ITGB4)	NP_000204.3:p.Ala1337Thr
NM_001005619.1:c.4009G>A (ITGB4)	NP_001005619.1:p.Ala1337Thr
NM_001005731.1:c.4009G>A (ITGB4)	NP_001005731.1:p.Ala1337Thr
XM_005257309.2:c.4009G>A (ITGB4)	XP_005257366.1:p.Ala1337Thr
XM_005257311.3:c.4009G>A (ITGB4)	XP_005257368.1:p.Ala1337Thr
XM_005257312.2:c.4009G>A (ITGB4)	XP_005257369.1:p.Ala1337Thr
XM_006721866.2:c.4114G>A (ITGB4)	XP_006721929.1:p.Ala1372Thr
XM_006721867.2:c.4114G>A (ITGB4)	XP_006721930.1:p.Ala1372Thr
XM_006721868.2:c.4114G>A (ITGB4)	XP_006721931.1:p.Ala1372Thr
XM_006721870.2:c.4114G>A (ITGB4)	XP_006721933.1:p.Ala1372Thr
XM_011524751.1:c.4114G>A (ITGB4)	XP_011523053.1:p.Ala1372Thr
XM_011524752.1:c.1954G>A (ITGB4)	XP_011523054.1:p.Ala652Thr
NM_000213.4:c.4009G>A (ITGB4)	NP_000204.3:p.Ala1337Thr
NM_001005731.2:c.4009G>A (ITGB4)	NP_001005731.1:p.Ala1337Thr
NM_001321123.1:c.4009G>A (ITGB4)	NP_001308052.1:p.Ala1337Thr
XM_005257311.4:c.4009G>A (ITGB4)	XP_005257368.1:p.Ala1337Thr
XM_006721866.3:c.4114G>A (ITGB4)	XP_006721929.1:p.Ala1372Thr
XM_006721867.3:c.4114G>A (ITGB4)	XP_006721930.1:p.Ala1372Thr
XM_006721868.3:c.4114G>A (ITGB4)	XP_006721931.1:p.Ala1372Thr
XM_006721870.3:c.4114G>A (ITGB4)	XP_006721933.1:p.Ala1372Thr
XM_011524751.2:c.4114G>A (ITGB4)	XP_011523053.1:p.Ala1372Thr
XM_011524752.2:c.1954G>A (ITGB4)	XP_011523054.1:p.Ala652Thr
NM_000213.5:c.4009G>A (ITGB4) MANE Select	NP_000204.3:p.Ala1337Thr
NM_001005731.3:c.4009G>A (ITGB4)	NP_001005731.1:p.Ala1337Thr
NM_001321123.2:c.4009G>A (ITGB4)	NP_001308052.1:p.Ala1337Thr
NM_001381985.1:c.*23-741C>T (GALK1)	NP_001368914.1:n.*23-741C>T