Canonical Allele Identifier: CA6615328

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 309778
• ClinVar RCV Id: RCV001405965 ; RCV003391107
• dbSNP Id: rs377148751
• ExAC: 12:56081764 G / A
• gnomAD v2: 12-56081764-G-A
• gnomAD v3: 12-55687980-G-A
• gnomAD v4: 12-55687980-G-A
• MyVariant Identifiers: chr12:g.56081764G>A (hg19) ; chr12:g.55687980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55687980G>A , CM000674.2:g.55687980G>A	GRCh38
NC_000012.11:g.56081764G>A , CM000674.1:g.56081764G>A	GRCh37
NC_000012.10:g.54368031G>A	NCBI36
NG_012343.1:g.29326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2798C>T	ENSP00000452467.1:n.*2798C>T
ENST00000554327.6:c.1845C>T
ENST00000557058.2:n.2589C>T
ENST00000557257.2:c.2700C>T	ENSP00000450578.2:p.Leu900=
ENST00000557555.3:c.3186C>T	ENSP00000451039.3:p.Leu1062=
ENST00000686981.1:c.*2885C>T	ENSP00000510795.1:n.*2885C>T
ENST00000687390.1:n.1280C>T
ENST00000688413.1:n.2288C>T
ENST00000691052.1:c.*1658C>T	ENSP00000508886.1:n.*1658C>T
ENST00000691846.1:c.1987C>T
ENST00000691973.1:c.3114C>T	ENSP00000509141.1:p.Leu1038=
ENST00000257879.11:c.3174C>T MANE Select	ENSP00000257879.7:p.Leu1058=
ENST00000553804.6:c.3186C>T	ENSP00000452120.1:p.Leu1062=
ENST00000557555.2:c.264C>T	ENSP00000451039.2:p.Leu88=
ENST00000257879.10:c.3174C>T	ENSP00000257879.6:p.Leu1058=
ENST00000347027.10:c.3156C>T	ENSP00000343009.6:p.Leu1052=
ENST00000452168.6:c.2895C>T	ENSP00000393844.2:p.Leu965=
ENST00000553804.5:c.3186C>T	ENSP00000452120.1:p.Leu1062=
ENST00000554327.5:c.1239C>T
ENST00000555728.5:c.3306C>T	ENSP00000452387.1:p.Leu1102=
ENST00000557555.1:c.264C>T
NM_001144996.1:c.3186C>T	NP_001138468.1:p.Leu1062=
NM_001144997.1:c.2895C>T	NP_001138469.1:p.Leu965=
NM_002206.2:c.3174C>T	NP_002197.2:p.Leu1058=
XM_005268839.1:c.3306C>T	XP_005268896.1:p.Leu1102=
XM_005268840.1:c.3288C>T	XP_005268897.1:p.Leu1096=
XM_005268841.1:c.3306C>T	XP_005268898.1:p.Leu1102=
XM_005268842.1:c.3156C>T	XP_005268899.1:p.Leu1052=
XM_005268844.1:c.2967C>T	XP_005268901.1:p.Leu989=
XM_005268845.1:c.2835C>T	XP_005268902.1:p.Leu945=
XM_005268846.1:c.2835C>T	XP_005268903.1:p.Leu945=
XM_005268847.1:c.2832C>T	XP_005268904.1:p.Leu944=
XM_005268848.1:c.2832C>T	XP_005268905.1:p.Leu944=
XM_005268849.1:c.2832C>T	XP_005268906.1:p.Leu944=
XM_005268850.1:c.2700C>T	XP_005268907.1:p.Leu900=
XM_011538286.1:c.2967C>T	XP_011536588.1:p.Leu989=
XM_005268839.2:c.3306C>T	XP_005268896.1:p.Leu1102=
XM_005268840.2:c.3288C>T	XP_005268897.1:p.Leu1096=
XM_005268841.2:c.3306C>T	XP_005268898.1:p.Leu1102=
XM_005268842.2:c.3156C>T	XP_005268899.1:p.Leu1052=
XM_017019265.1:c.2916C>T	XP_016874754.1:p.Leu972=
NM_001144996.2:c.3186C>T	NP_001138468.1:p.Leu1062=
NM_001367993.1:c.2847C>T	NP_001354922.1:p.Leu949=
NM_001367994.1:c.1830C>T	NP_001354923.1:p.Leu610=
NM_001374465.1:c.3156C>T	NP_001361394.1:p.Leu1052=
NM_002206.3:c.3174C>T MANE Select	NP_002197.2:p.Leu1058=