Canonical Allele Identifier: CA401080566

Gene: ITGB4 GALK1

Linked Data

• gnomAD v4: 17-75752456-C-G
• MyVariant Identifiers: chr17:g.73748537C>G (hg19) ; chr17:g.75752456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75752456C>G , CM000679.2:g.75752456C>G	GRCh38
NC_000017.10:g.73748537C>G , CM000679.1:g.73748537C>G	GRCh37
NC_000017.9:g.71260132C>G	NCBI36
NG_007372.1:g.36022C>G
NG_008079.2:g.17744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.3987C>G (ITGB4)	ENSP00000400217.2:p.Ile1329Met
ENST00000200181.8:c.3987C>G (ITGB4) MANE Select	ENSP00000200181.3:p.Ile1329Met
ENST00000200181.7:c.3987C>G (ITGB4)	ENSP00000200181.3:p.Ile1329Met
ENST00000225614.6:c.*23-719G>C (GALK1)	ENSP00000225614.1:n.*23-719G>C
ENST00000449880.6:c.3987C>G (ITGB4)	ENSP00000400217.2:p.Ile1329Met
ENST00000450894.7:c.3987C>G (ITGB4)	ENSP00000405536.3:p.Ile1329Met
ENST00000579662.5:c.3987C>G (ITGB4)	ENSP00000463651.1:p.Ile1329Met
ENST00000582629.1:c.266-5170C>G (ITGB4)	ENSP00000463788.1:n.266-5170C>G
ENST00000583327.2:n.230C>G (ITGB4)
ENST00000589643.1:n.255-719G>C (GALK1)
NM_000213.3:c.3987C>G (ITGB4)	NP_000204.3:p.Ile1329Met
NM_001005619.1:c.3987C>G (ITGB4)	NP_001005619.1:p.Ile1329Met
NM_001005731.1:c.3987C>G (ITGB4)	NP_001005731.1:p.Ile1329Met
XM_005257309.2:c.3987C>G (ITGB4)	XP_005257366.1:p.Ile1329Met
XM_005257311.3:c.3987C>G (ITGB4)	XP_005257368.1:p.Ile1329Met
XM_005257312.2:c.3987C>G (ITGB4)	XP_005257369.1:p.Ile1329Met
XM_006721866.2:c.4092C>G (ITGB4)	XP_006721929.1:p.Ile1364Met
XM_006721867.2:c.4092C>G (ITGB4)	XP_006721930.1:p.Ile1364Met
XM_006721868.2:c.4092C>G (ITGB4)	XP_006721931.1:p.Ile1364Met
XM_006721870.2:c.4092C>G (ITGB4)	XP_006721933.1:p.Ile1364Met
XM_011524751.1:c.4092C>G (ITGB4)	XP_011523053.1:p.Ile1364Met
XM_011524752.1:c.1932C>G (ITGB4)	XP_011523054.1:p.Ile644Met
NM_000213.4:c.3987C>G (ITGB4)	NP_000204.3:p.Ile1329Met
NM_001005731.2:c.3987C>G (ITGB4)	NP_001005731.1:p.Ile1329Met
NM_001321123.1:c.3987C>G (ITGB4)	NP_001308052.1:p.Ile1329Met
XM_005257311.4:c.3987C>G (ITGB4)	XP_005257368.1:p.Ile1329Met
XM_006721866.3:c.4092C>G (ITGB4)	XP_006721929.1:p.Ile1364Met
XM_006721867.3:c.4092C>G (ITGB4)	XP_006721930.1:p.Ile1364Met
XM_006721868.3:c.4092C>G (ITGB4)	XP_006721931.1:p.Ile1364Met
XM_006721870.3:c.4092C>G (ITGB4)	XP_006721933.1:p.Ile1364Met
XM_011524751.2:c.4092C>G (ITGB4)	XP_011523053.1:p.Ile1364Met
XM_011524752.2:c.1932C>G (ITGB4)	XP_011523054.1:p.Ile644Met
NM_000213.5:c.3987C>G (ITGB4) MANE Select	NP_000204.3:p.Ile1329Met
NM_001005731.3:c.3987C>G (ITGB4)	NP_001005731.1:p.Ile1329Met
NM_001321123.2:c.3987C>G (ITGB4)	NP_001308052.1:p.Ile1329Met
NM_001381985.1:c.*23-719G>C (GALK1)	NP_001368914.1:n.*23-719G>C