Canonical Allele Identifier: CA8770436

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75756932T>C , CM000679.2:g.75756932T>C	GRCh38
NC_000017.10:g.73753013T>C , CM000679.1:g.73753013T>C	GRCh37
NC_000017.9:g.71264608T>C	NCBI36
NG_007372.1:g.40498T>C
NG_008079.1:g.13268A>G
NG_008079.2:g.13268A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.5054-11T>C (ITGB4) MANE Select	NP_000204.3:n.5054-11T>C
ENST00000200181.8:c.5054-11T>C (ITGB4) MANE Select	ENSP00000200181.3:n.5054-11T>C
NM_000213.3:c.5054-11T>C (ITGB4)	NP_000204.3:n.5054-11T>C
NM_000213.4:c.5054-11T>C (ITGB4)	NP_000204.3:n.5054-11T>C
NM_001005619.1:c.5003-11T>C (ITGB4)	NP_001005619.1:n.5003-11T>C
NM_001005731.1:c.4844-11T>C (ITGB4)	NP_001005731.1:n.4844-11T>C
NM_001005731.2:c.4844-11T>C (ITGB4)	NP_001005731.1:n.4844-11T>C
NM_001005731.3:c.4844-11T>C (ITGB4)	NP_001005731.1:n.4844-11T>C
NM_001321123.1:c.4844-11T>C (ITGB4)	NP_001308052.1:n.4844-11T>C
NM_001321123.2:c.4844-11T>C (ITGB4)	NP_001308052.1:n.4844-11T>C
NM_001381985.1:c.*22+1102A>G (GALK1)	NP_001368914.1:n.*22+1102A>G
ENST00000200181.7:c.5054-11T>C (ITGB4)	ENSP00000200181.3:n.5054-11T>C
ENST00000225614.6:c.*22+1102A>G (GALK1)	ENSP00000225614.1:n.*22+1102A>G
ENST00000449880.6:c.5003-11T>C (ITGB4)	ENSP00000400217.2:n.5003-11T>C
ENST00000449880.7:c.5003-11T>C (ITGB4)	ENSP00000400217.2:n.5003-11T>C
ENST00000450894.7:c.4844-11T>C (ITGB4)	ENSP00000405536.3:n.4844-11T>C
ENST00000579662.5:c.4844-11T>C (ITGB4)	ENSP00000463651.1:n.4844-11T>C
ENST00000582629.1:c.266-694T>C (ITGB4)	ENSP00000463788.1:n.266-694T>C
ENST00000584939.1:c.544-11T>C (ITGB4)
ENST00000589643.1:n.254+1102A>G (GALK1)
XM_005257309.2:c.5213-11T>C (ITGB4)	XP_005257366.1:n.5213-11T>C
XM_005257311.3:c.5213-11T>C (ITGB4)	XP_005257368.1:n.5213-11T>C
XM_005257311.4:c.5213-11T>C (ITGB4)	XP_005257368.1:n.5213-11T>C
XM_005257312.2:c.4844-11T>C (ITGB4)	XP_005257369.1:n.4844-11T>C
XM_006721866.2:c.5318-11T>C (ITGB4)	XP_006721929.1:n.5318-11T>C
XM_006721866.3:c.5318-11T>C (ITGB4)	XP_006721929.1:n.5318-11T>C
XM_006721867.2:c.5159-11T>C (ITGB4)	XP_006721930.1:n.5159-11T>C
XM_006721867.3:c.5159-11T>C (ITGB4)	XP_006721930.1:n.5159-11T>C
XM_006721868.2:c.5108-11T>C (ITGB4)	XP_006721931.1:n.5108-11T>C
XM_006721868.3:c.5108-11T>C (ITGB4)	XP_006721931.1:n.5108-11T>C
XM_006721870.2:c.4949-11T>C (ITGB4)	XP_006721933.1:n.4949-11T>C
XM_006721870.3:c.4949-11T>C (ITGB4)	XP_006721933.1:n.4949-11T>C
XM_011524751.1:c.5009-11T>C (ITGB4)	XP_011523053.1:n.5009-11T>C
XM_011524751.2:c.5009-11T>C (ITGB4)	XP_011523053.1:n.5009-11T>C
XM_011524752.1:c.3158-11T>C (ITGB4)	XP_011523054.1:n.3158-11T>C
XM_011524752.2:c.3158-11T>C (ITGB4)	XP_011523054.1:n.3158-11T>C