Canonical Allele Identifier: CA294081675

Gene: ITGB4 GALK1

Linked Data

• dbSNP Id: rs1043539767
• gnomAD v2: 17-73748311-C-T
• gnomAD v4: 17-75752230-C-T
• MyVariant Identifiers: chr17:g.73748311C>T (hg19) ; chr17:g.75752230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75752230C>T , CM000679.2:g.75752230C>T	GRCh38
NC_000017.10:g.73748311C>T , CM000679.1:g.73748311C>T	GRCh37
NC_000017.9:g.71259906C>T	NCBI36
NG_007372.1:g.35796C>T
NG_008079.2:g.17970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.3850C>T (ITGB4)	ENSP00000400217.2:p.Leu1284Phe
ENST00000200181.8:c.3850C>T (ITGB4) MANE Select	ENSP00000200181.3:p.Leu1284Phe
ENST00000200181.7:c.3850C>T (ITGB4)	ENSP00000200181.3:p.Leu1284Phe
ENST00000225614.6:c.*23-493G>A (GALK1)	ENSP00000225614.1:n.*23-493G>A
ENST00000449880.6:c.3850C>T (ITGB4)	ENSP00000400217.2:p.Leu1284Phe
ENST00000450894.7:c.3850C>T (ITGB4)	ENSP00000405536.3:p.Leu1284Phe
ENST00000579662.5:c.3850C>T (ITGB4)	ENSP00000463651.1:p.Leu1284Phe
ENST00000582629.1:c.266-5396C>T (ITGB4)	ENSP00000463788.1:n.266-5396C>T
ENST00000583327.2:n.93C>T (ITGB4)
ENST00000589643.1:n.255-493G>A (GALK1)
NM_000213.3:c.3850C>T (ITGB4)	NP_000204.3:p.Leu1284Phe
NM_001005619.1:c.3850C>T (ITGB4)	NP_001005619.1:p.Leu1284Phe
NM_001005731.1:c.3850C>T (ITGB4)	NP_001005731.1:p.Leu1284Phe
XM_005257309.2:c.3850C>T (ITGB4)	XP_005257366.1:p.Leu1284Phe
XM_005257311.3:c.3850C>T (ITGB4)	XP_005257368.1:p.Leu1284Phe
XM_005257312.2:c.3850C>T (ITGB4)	XP_005257369.1:p.Leu1284Phe
XM_006721866.2:c.3955C>T (ITGB4)	XP_006721929.1:p.Leu1319Phe
XM_006721867.2:c.3955C>T (ITGB4)	XP_006721930.1:p.Leu1319Phe
XM_006721868.2:c.3955C>T (ITGB4)	XP_006721931.1:p.Leu1319Phe
XM_006721870.2:c.3955C>T (ITGB4)	XP_006721933.1:p.Leu1319Phe
XM_011524751.1:c.3955C>T (ITGB4)	XP_011523053.1:p.Leu1319Phe
XM_011524752.1:c.1795C>T (ITGB4)	XP_011523054.1:p.Leu599Phe
NM_000213.4:c.3850C>T (ITGB4)	NP_000204.3:p.Leu1284Phe
NM_001005731.2:c.3850C>T (ITGB4)	NP_001005731.1:p.Leu1284Phe
NM_001321123.1:c.3850C>T (ITGB4)	NP_001308052.1:p.Leu1284Phe
XM_005257311.4:c.3850C>T (ITGB4)	XP_005257368.1:p.Leu1284Phe
XM_006721866.3:c.3955C>T (ITGB4)	XP_006721929.1:p.Leu1319Phe
XM_006721867.3:c.3955C>T (ITGB4)	XP_006721930.1:p.Leu1319Phe
XM_006721868.3:c.3955C>T (ITGB4)	XP_006721931.1:p.Leu1319Phe
XM_006721870.3:c.3955C>T (ITGB4)	XP_006721933.1:p.Leu1319Phe
XM_011524751.2:c.3955C>T (ITGB4)	XP_011523053.1:p.Leu1319Phe
XM_011524752.2:c.1795C>T (ITGB4)	XP_011523054.1:p.Leu599Phe
NM_000213.5:c.3850C>T (ITGB4) MANE Select	NP_000204.3:p.Leu1284Phe
NM_001005731.3:c.3850C>T (ITGB4)	NP_001005731.1:p.Leu1284Phe
NM_001321123.2:c.3850C>T (ITGB4)	NP_001308052.1:p.Leu1284Phe
NM_001381985.1:c.*23-493G>A (GALK1)	NP_001368914.1:n.*23-493G>A